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At the University of Basel Children’s Hospital, Basel, Switzerland, children with RS were included if they were older than 6 years and met the established diagnostic criteria of RS, including a positive MeCP2 mutation. Participants were observed 6 months before and after treatment and received 12 months of fingolimod treatment. Serum samples of 50 children without RS served as reference for brain-derived neurotrophic factor (BDNF) measurements. Primary outcome measures were safety and efficacy, the latter measured by change in levels of BDNF in serum\u002FCSF (cerebrospinal fluid) and change in deep gray matter volumes measured by magnetic resonance imaging (MRI). Secondary outcome measure was efficacy measured by change in clinical scores [Vineland Adaptive Behaviour Scale (VABS), Rett Severity Scale (RSSS) and Hand Apraxia Scale (HAS)]. Six children with RS (all girls, mean and SD age 11.3 ± 3.1 years) were included. Serum samples of 50 children without RS (25 females, mean and SD age 13.5 ± 3.9 years) served as reference for BDNF measurements. No serious adverse events occurred. Primary and secondary outcome measures were not met. CSF BDNF levels were associated with all clinical scores: RSSS (estimate − 0.04, mult.effect 0.96, CI [0.94; 0.98], p = 0.03), HAS (estimate − 0.09, mult.effect 0.91, CI [0.89; 0.94], p \u003C  0.01) and VABS (communication: estimate 0.03, mult.effect 1.03, CI [1.02; 1.04], p \u003C 0.01\u002Fdaily living: estimate 0.03, mult.effect 1.03, CI [1.02; 1.04], p \u003C 0.01\u002Fsocial skills: estimate 0.07, mult.effect 1.08, CI [1.05; 1.11], p \u003C 0.01\u002Fmotoric skills: estimate 0.04, mult.effect 1.04, CI [1.03; 1.06], p = 0.02). In children with RS, treatment with fingolimod was safe. The study did not provide supportive evidence for an effect of fingolimod on clinical, laboratory, and imaging measures. CSF BDNF levels were associated with clinical scores, indicating a need to further evaluate its potential as a biomarker for RS. This finding should be further validated in independent patient groups. 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On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr. 1966;116(37):723–6.","https:\u002F\u002Flink.springer.com\u002F10.1007\u002Fs10440-022-00541-7",{"doi":466},"10.1007\u002Fs10440-022-00541-7",{"id":462,"text":468,"url":464,"identifiers":469},"Hagberg BA. Rett syndrome: clinical peculiarities, diagnostic approach, and possible cause. Pediatr Neurol. 1989;5(2):75–83.",{"doi":466},{"id":462,"text":471,"url":464,"identifiers":472},"Hagberg B, Witt-Engerstrom I. Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet Suppl. 1986;1:47–59.",{"doi":466},{"id":462,"text":474,"url":464,"identifiers":475},"Pini G, Bigoni S, Congiu L, Romanelli AM, Scusa MF, Di Marco P, et al. Rett syndrome: a wide clinical and autonomic picture. Orphanet J Rare Dis. 2016;11(1):132.",{"doi":466},{"id":462,"text":477,"url":464,"identifiers":478},"Armstrong DD. Neuropathology of Rett syndrome. J Child Neurol. 2005;20(9):747–53.",{"doi":466},{"id":480,"text":481,"url":482,"identifiers":483},"beeb48f2-63cc-4c91-af2a-5424bd1a9526","Armstrong DD. Rett syndrome neuropathology review 2000. Brain Dev. 2001;23(Suppl 1):S72–6.","https:\u002F\u002Fwww.sciencedirect.com\u002Fscience\u002Farticle\u002Fpii\u002FS0387760401003321",{"doi":484},"10.1016\u002FS0387-7604(01)00332-1",{"id":462,"text":486,"url":464,"identifiers":487},"Naidu S, Kaufmann WE, Abrams MT, Pearlson GD, Lanham DC, Fredericksen KA, et al. Neuroimaging studies in Rett syndrome. Brain Dev. 2001;23(Suppl 1):S62-71.",{"doi":466},{"id":462,"text":489,"url":464,"identifiers":490},"Pejhan S, Siu VM, Ang LC, Del Bigio MR, Rastegar M. Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey-white matter variation. Neuropathol Appl Neurobiol. 2020.",{"doi":466},{"id":462,"text":492,"url":464,"identifiers":493},"Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185–8.",{"doi":466},{"id":462,"text":495,"url":464,"identifiers":496},"Lyst MJ, Bird A. Rett syndrome: a complex disorder with simple roots. Nat Rev Genet. 2015;16(5):261–75.",{"doi":466},{"id":462,"text":498,"url":464,"identifiers":499},"Guy J, Gan J, Selfridge J, Cobb S, Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science. 2007;315(5815):1143–7.",{"doi":466},{"id":462,"text":501,"url":464,"identifiers":502},"Brinkmann V, Davis MD, Heise CE, Albert R, Cottens S, Hof R, et al. The immune modulator FTY720 targets sphingosine 1-phosphate receptors. J Biol Chem. 2002;277(24):21453–7.",{"doi":466},{"id":504,"text":505,"url":506,"identifiers":507},"b2ac3083-74d9-4cac-96c2-c074f2bacba7","Khatri B, Barkhof F, Comi G, Hartung HP, Kappos L, Montalban X, et al. Comparison of fingolimod with interferon beta-1a in relapsing-remitting multiple sclerosis: a randomised extension of the TRANSFORMS study. Lancet Neurol. 2011;10(6):520–9.","https:\u002F\u002Fwww.sciencedirect.com\u002Fscience\u002Farticle\u002Fpii\u002FS1474442211700990",{"doi":508},"10.1016\u002Fs1474-4422(11)70099-0",{"id":462,"text":510,"url":464,"identifiers":511},"Calabresi PA, Radue EW, Goodin D, Jeffery D, Rammohan KW, Reder AT, et al. Safety and efficacy of fingolimod in patients with relapsing-remitting multiple sclerosis (FREEDOMS II): a double-blind, randomised, placebo-controlled, phase 3 trial. Lancet Neurol. 2014;13(6):545–56.",{"doi":466},{"id":462,"text":513,"url":464,"identifiers":514},"Chitnis T, Arnold DL, Banwell B, Bruck W, Ghezzi A, Giovannoni G, et al. Trial of fingolimod versus interferon beta-1a in pediatric multiple sclerosis. New Engl J Med. 2018;379(11):1017–27.",{"doi":466},{"id":462,"text":516,"url":464,"identifiers":517},"Kappos L, Radue EW, O’Connor P, Polman C, Hohlfeld R, Calabresi P, et al. A placebo-controlled trial of oral fingolimod in relapsing multiple sclerosis. New Engl J Med. 2010;362(5):387–401.",{"doi":466},{"id":462,"text":519,"url":464,"identifiers":520},"Deogracias R, Yazdani M, Dekkers MP, Guy J, Ionescu MC, Vogt KE, et al. Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome. Proc Natl Acad Sci USA. 2012;109(35):14230–5.",{"doi":466},{"id":462,"text":522,"url":464,"identifiers":523},"Chang Q, Khare G, Dani V, Nelson S, Jaenisch R. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron. 2006;49(3):341–8.",{"doi":466},{"id":462,"text":525,"url":464,"identifiers":526},"Park H, Poo MM. Neurotrophin regulation of neural circuit development and function. Nat Rev Neurosci. 2013;14(1):7–23.",{"doi":466},{"id":462,"text":528,"url":464,"identifiers":529},"Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol. 2002;6(5):293–7.",{"doi":466},{"id":462,"text":531,"url":464,"identifiers":532},"Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8(2):61–5.",{"doi":466},{"id":462,"text":534,"url":464,"identifiers":535},"Disanto G, Barro C, Benkert P, Naegelin Y, Schadelin S, Giardiello A, et al. Serum Neurofilament light: A biomarker of neuronal damage in multiple sclerosis. Ann Neurol. 2017;81(6):857–70.",{"doi":466},{"id":462,"text":537,"url":464,"identifiers":538},"Barro C, Benkert P, Disanto G, Tsagkas C, Amann M, Naegelin Y, et al. Serum neurofilament as a predictor of disease worsening and brain and spinal cord atrophy in multiple sclerosis. Brain J Neurol. 2018;141(8):2382–91.",{"doi":466},{"id":462,"text":540,"url":464,"identifiers":541},"Gafson AR, Barthelemy NR, Bomont P, Carare RO, Durham HD, Julien JP, et al. Neurofilaments: neurobiological foundations for biomarker applications. Brain J Neurol. 2020.",{"doi":466},{"id":462,"text":543,"url":464,"identifiers":544},"Carpentieri S, Morgan SB. Adaptive and intellectual functioning in autistic and nonautistic retarded children. J Autism Dev Disord. 1996;26(6):611–20.",{"doi":466},{"id":462,"text":546,"url":464,"identifiers":547},"Schanen C, Houwink EJ, Dorrani N, Lane J, Everett R, Feng A, et al. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet A. 2004;126A(2):129–40.",{"doi":466},{"id":462,"text":549,"url":464,"identifiers":550},"Burd L, Cook J, Randall T. The hand apraxia scale. Percept Mot Skills. 1990;70(1):219–24.",{"doi":466},{"id":462,"text":552,"url":464,"identifiers":553},"Amann M, Andelova M, Pfister A, Mueller-Lenke N, Traud S, Reinhardt J, et al. Subcortical brain segmentation of two dimensional T1-weighted data sets with FMRIB’s Integrated Registration and Segmentation Tool (FIRST). Neuroimage Clin. 2015;7:43–52.",{"doi":466},{"id":462,"text":555,"url":464,"identifiers":556},"Patenaude B, Smith SM, Kennedy DN, Jenkinson M. A Bayesian model of shape and appearance for subcortical brain segmentation. Neuroimage. 2011;56(3):907–22.",{"doi":466},{"id":462,"text":558,"url":464,"identifiers":559},"Silva AC, Kim SG. Pseudo-continuous arterial spin labeling technique for measuring CBF dynamics with high temporal resolution. Magn Reson Med. 1999;42(3):425–9.",{"doi":466},{"id":462,"text":561,"url":464,"identifiers":562},"Wong EC, Buxton RB, Frank LR. Implementation of quantitative perfusion imaging techniques for functional brain mapping using pulsed arterial spin labeling. NMR Biomed. 1997;10(4–5):237–49.",{"doi":466},{"id":462,"text":564,"url":464,"identifiers":565},"Claus JJ, Strijers RL, Jonkman EJ, Ongerboer de Visser BW, Jonker C, Walstra GJ, et al. The diagnostic value of electroencephalography in mild senile Alzheimer’s disease. Clin Neurophysiol. 1999;110(5):825–32.",{"doi":466},{"id":20,"text":567,"url":568,"identifiers":569},"Naegelin Y, Dingsdale H, Sauberli K, Schadelin S, Kappos L, Barde YA. Measuring and validating the levels of brain-derived neurotrophic factor in human serum. eNeuro. 2018;5(2). https:\u002F\u002Fdoi.org\u002F10.1523\u002FENEURO.0419-17.2018.","https:\u002F\u002Fdoi.org\u002F10.1523\u002Feneuro.0419-17.2018",{"mag":570,"pmc":571,"openalex":572,"pm":573,"doi":574},"2791098778","5898630","W2791098778","29662942","10.1523\u002Feneuro.0419-17.2018",{"id":462,"text":576,"url":464,"identifiers":577},"Baquet ZC, Gorski JA, Jones KR. Early striatal dendrite deficits followed by neuron loss with advanced age in the absence of anterograde cortical brain-derived neurotrophic factor. J Neurosci. 2004;24(17):4250–8.",{"doi":466},{"id":462,"text":579,"url":464,"identifiers":580},"Rauskolb S, Zagrebelsky M, Dreznjak A, Deogracias R, Matsumoto T, Wiese S, et al. Global deprivation of brain-derived neurotrophic factor in the CNS reveals an area-specific requirement for dendritic growth. J Neurosci. 2010;30(5):1739–49.",{"doi":466},{"id":462,"text":582,"url":464,"identifiers":583},"Chacon-Fernandez P, Sauberli K, Colzani M, Moreau T, Ghevaert C, Barde YA. Brain-derived neurotrophic factor in megakaryocytes. J Biol Chem. 2016;291(19):9872–81.",{"doi":466},false,{"id":586,"createTime":587,"updateTime":588,"relativeEntities":589,"slug":590,"properties":591,"entityType":188,"verifyStatus":189,"verifyTime":602,"verifyNote":191,"languages":20,"translateLanguages":20,"viewCount":21,"primaryUrl":603,"fullTextUrl":20,"authors":604,"publicationType":397,"publisherRelationship":674,"citationCount":20,"citationInfo":20,"publishDate":728,"publishYear":454,"citationAnalyzeStatus":729,"lastCitationAnalyze":588,"indexDatabases":730,"openAccess":20,"references":20,"isForceReanalyzing":584},"13803f64-a8c2-416d-8173-193ed8884403","2023-12-23T00:33:03.387+00:00","2026-08-18T06:37:58.557+00:00",[],"Prevalence-of-low-alkaline-phosphatase-activity-in-laboratory-assessment-Is-hypophosphatasia-an-underdiagnosed-disease-",{"abstract":592,"title":594,"gsPaper":596,"references":598,"doi":600},{"EN":593},"Tissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene is of particular importance for bone mineralization. Mutation in the ALPL gene can lead to persistent low ALP activity resulting in the rare disease Hypophosphatasia (HPP) that is characterized by disturbed bone and dental mineralization. While severe forms are extremely rare with an estimated prevalence of 1\u002F100.000, recent studies suggest that moderate form caused by heterozygous mutations are much more frequent with an estimated prevalence of 1\u002F508. The purpose of this study was to estimate the prevalence of low AP levels in the population based on laboratory measurements. In this study, the prevalence of low AP activity and elevated pyridoxal-5-phosphate (PLP) levels was analyzed in 6.918.126 measurements from 2011 to 2016 at a single laboratory in northern Germany. Only laboratory values of subjects older than 18 years of age were included. Only the first measurement was included, all repeated values were excluded. In total, 8.46% of the measurements of a total of 6.918.126 values showed a value \u003C 30 U\u002FL. 0.59% of the subjects with an ALP activity below 30 U\u002FL had an additional PLP measurement. Here, 6.09% showed elevated pyridoxal-5-phosphate (PLP) levels. This suggest that 0.52% (1:194) of subjects show laboratory signs of HPP. These data support the genetic estimation that the prevalence of moderate forms of HPP may be significantly higher than expected. Based on these data, we recommend automatically measurement of PLP in the case of low ALP activity and a notification to the ordering physician that HPP should be included in the differential diagnosis and further exploration is recommended.",{"EN":595},"Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?",{"VOID":597},"[]",{"VOID":599},"Whyte MP. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 2010;1192:190–200.\nMillan JL, Whyte MP. Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. 2016;98(4):398–416.\nWhyte MP. Hypophosphatasia—aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12(4):233–46.\nWhyte MP, Coburn SP, Ryan LM, Ericson KL, Zhang F. Hypophosphatasia: biochemical hallmarks validate the expanded pediatric clinical nosology. Bone. 2018;110:96–106.\nPierpont EI, Simmons JH, Spurlock KJ, Shanley R, Sarafoglou KM. Impact of pediatric hypophosphatasia on behavioral health and quality of life. Orphanet J Rare Dis. 2021;16(1):80.\nWeber TJ, Sawyer EK, Moseley S, Odrljin T, Kishnani PS. Burden of disease in adult patients with hypophosphatasia: results from two patient-reported surveys. Metabolism. 2016;65(10):1522–30.\nMornet E. Molecular genetics of hypophosphatasia and phenotype-genotype correlations. Subcell Biochem. 2015;76:25–43.\nMornet E, Taillandier A, Domingues C, Dufour A, Benaloun E, Lavaud N, Wallon F, Rousseau N, Charle C, Guberto M, et al. Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation. Eur J Hum Genet. 2020;29:289–99.\nhttp:\u002F\u002Fwww.sesep.uvsq.fr\u002F03_hypo_mutations.php.\nJandl NM, Schmidt T, Rolvien T, Stürznickel J, Chrysostomou K, von Vopelius E, Volk AE, Schinke T, Kubisch C, Amling M, et al. Genotype-phenotype associations in 72 adults with suspected ALPL-Associated hypophosphatasia. Calcif Tissue Int. 2020;108:288–301.\nWhyte MP. Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev. 1994;15(4):439–61.\nSchmidt T, Mussawy H, Rolvien T, Hawellek T, Hubert J, Ruther W, Amling M, Barvencik F. Clinical, radiographic and biochemical characteristics of adult hypophosphatasia. Osteoporos Int. 2017;28(9):2653–62.\nMcKiernan FE, Shrestha LK, Berg RL, Fuehrer J. Acute hypophosphatasemia. Osteoporos Int. 2013;25(2):519–23.\nRiancho-Zarrabeitia L, Garcia-Unzueta M, Tenorio JA, Gomez-Gerique JA, Ruiz Perez VL, Heath KE, Lapunzina P, Riancho JA. Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. Eur J Intern Med. 2016;29:40–5.\nWhyte MP, Mahuren JD, Vrabel LA, Coburn SP. Markedly increased circulating pyridoxal-5’-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Investig. 1985;76(2):752–6.\nMornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet. 2011;75(3):439–45.\nMcKiernan FE, Berg RL, Fuehrer J. Clinical and radiographic findings in adults with persistent hypophosphatasemia. J Bone Miner Res. 2014;29(7):1651–60.\nGarcia-Fontana C, Villa-Suarez JM, Andujar-Vera F, Gonzalez-Salvatierra S, Martinez-Navajas G, Real PJ, Gomez Vida JM, de Haro T, Garcia-Fontana B, Munoz-Torres M. Epidemiological, clinical and genetic study of hypophosphatasia in a Spanish population: identification of two novel mutations in the Alpl gene. Sci Rep. 2019;9(1):9569.\nTuran S, Topcu B, Gökçe İ, Güran T, Atay Z, Omar A, Akçay T, Bereket A. Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of rickets. J Clin Res Pediatr Endocrinol. 2011;3(1):7–11.\nHogler W, Langman C, Gomes d aSilva H, Fang S, Linglart A, Ozono K, Petryk A, Rockman-Greenberg C, Seefried L, Kishnani PS. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. BMC Musculoskelet Disord. 2019;20(1):80.",{"VOID":601},"10.1186\u002Fs13023-021-02084-w","2024-09-04T17:48:07.225+00:00","https:\u002F\u002Fojrd.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs13023-021-02084-w",[605,620,633,646,661],{"id":606,"sortIndex":21,"researcher":20,"roles":607,"affiliations":608,"properties":617,"displayName":619,"givenName":20,"familyName":20},"b5edcafe-6c57-46ea-9bab-a18a2804cac9",[197],[609],{"id":610,"sortIndex":21,"affiliation":611,"properties":20},"83aeda0f-975f-4fd1-83c7-cc6a3bdbe680",{"id":610,"createTime":20,"updateTime":20,"relativeEntities":612,"slug":20,"properties":613,"entityType":20,"verifyStatus":20,"verifyTime":20,"verifyNote":20,"languages":20,"translateLanguages":20,"viewCount":20,"url":20,"parentIds":616,"statistic":20},[],{"title":614},{"VI":615},"Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany",[],{"title":618},{"VI":619},"Tobias Schmidt",{"id":621,"sortIndex":209,"researcher":20,"roles":622,"affiliations":623,"properties":630,"displayName":632,"givenName":20,"familyName":20},"ca79a1e2-d3fb-4be8-9dbf-8daf15760104",[197],[624],{"id":610,"sortIndex":21,"affiliation":625,"properties":20},{"id":610,"createTime":20,"updateTime":20,"relativeEntities":626,"slug":20,"properties":627,"entityType":20,"verifyStatus":20,"verifyTime":20,"verifyNote":20,"languages":20,"translateLanguages":20,"viewCount":20,"url":20,"parentIds":629,"statistic":20},[],{"title":628},{"VI":615},[],{"title":631},{"VI":632},"Constantin 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Amling",{"id":647,"sortIndex":254,"researcher":20,"roles":648,"affiliations":649,"properties":658,"displayName":660,"givenName":20,"familyName":20},"6a201007-c1cf-4665-b264-318a6f0b4756",[197],[650],{"id":651,"sortIndex":21,"affiliation":652,"properties":20},"da3ff905-a007-4b4f-a0c6-18dc68817846",{"id":651,"createTime":20,"updateTime":20,"relativeEntities":653,"slug":20,"properties":654,"entityType":20,"verifyStatus":20,"verifyTime":20,"verifyNote":20,"languages":20,"translateLanguages":20,"viewCount":20,"url":20,"parentIds":657,"statistic":20},[],{"title":655},{"VI":656},"LADR Laboratory Group Dr. Kramer and Colleagues, Geesthacht, Germany",[],{"title":659},{"VI":660},"Jan Kramer",{"id":662,"sortIndex":272,"researcher":20,"roles":663,"affiliations":664,"properties":671,"displayName":673,"givenName":20,"familyName":20},"0b7fed23-011f-4e13-991b-dff0292070cb",[197],[665],{"id":610,"sortIndex":21,"affiliation":666,"properties":20},{"id":610,"createTime":20,"updateTime":20,"relativeEntities":667,"slug":20,"properties":668,"entityType":20,"verifyStatus":20,"verifyTime":20,"verifyNote":20,"languages":20,"translateLanguages":20,"viewCount":20,"url":20,"parentIds":670,"statistic":20},[],{"title":669},{"VI":615},[],{"title":672},{"VI":673},"Florian 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apheresis (LA) is considered as an add-on therapy for patients with familial hypercholesterolemia (FH). We aimed to analyze the data collected in the last 15 years from FH patients treated with LA, to elucidate the benefit of this procedure with respect to plasma lipids, biomarkers of inflammation, and endothelial dysfunction and soluble endoglin. 14 patients (10 heterozygous FH patients (HeFH), 4 homozygous FH patients (HoFH)) were treated by long-term lipoprotein apheresis. Lipid levels were examined, and ELISA detected biomarkers of inflammation and soluble endoglin. Paired tests were used for intergroup comparisons, and a linear regression model served to estimate the influence of the number of days patients were treated with LA on the studied parameters. LA treatment was associated with a significant decrease of total cholesterol (TC), LDL-C, HDL-C, and apoB, in both HeFH and HoFH patients, after single apheresis and in a long-term period during the monitored interval of 15 years. Biomarkers of inflammation and endothelial dysfunction were reduced for soluble endoglin, hsCRP, and MCP-1, and sP-selectin after each procedure in some HeFH and HoFH patients. LA treatment up to 15 years, reduced cholesterol levels, levels of biomarkers related to endothelial dysfunction, and inflammation not only after each procedure but also in the long-term evaluation in FH patients. We propose that long-term LA treatment improves lipid profile and endothelial dysfunction in familial hypercholesterolemia patients, suggesting a promising improvement in cardiovascular prognosis in most FH patients.",{"EN":741},"Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients",{"VOID":743},"[\"15675126179167966953\"]",{"VOID":745},"10.1186\u002Fs13023-021-01749-w","2024-04-29T08:21:29.950+00:00","https:\u002F\u002Fojrd.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs13023-021-01749-w",[749,764,779,792,805,818,833,848,863,876,889,902],{"id":750,"sortIndex":21,"researcher":20,"roles":751,"affiliations":752,"properties":761,"displayName":763,"givenName":20,"familyName":20},"00f961af-4383-41ca-aade-f55db75fa9e3",[197],[753],{"id":754,"sortIndex":21,"affiliation":755,"properties":20},"f8827f4f-5f7f-4689-b9ff-239a7b06d301",{"id":754,"createTime":20,"updateTime":20,"relativeEntities":756,"slug":20,"properties":757,"entityType":20,"verifyStatus":20,"verifyTime":20,"verifyNote":20,"languages":20,"translateLanguages":20,"viewCount":20,"url":20,"parentIds":760,"statistic":20},[],{"title":758},{"VI":759},"Metabolism and Gerontology, 3rd Department of Internal Medicine, Faculty of Medicine in Hradec Králové, University Hospital Hradec Králové and Charles University, Hradec Králové, Czech Republic",[],{"title":762},{"VI":763},"J. 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Familial hypercholesterolemia: the most common monogenic disorder in humans. J Am Coll Cardiol. 2020;75:2567–9. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.jacc.2020.03.058.","https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.jacc.2020.03.058",{"doi":980},"10.1016\u002Fj.jacc.2020.03.058",{"id":982,"text":983,"url":984,"identifiers":985},"173d4bba-4277-4dd5-a307-b1bad67b3e46","Abifadel M, Elbitar S, El Khoury P, et al. Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs. Curr Atheroscler Rep. 2014;16:439. https:\u002F\u002Fdoi.org\u002F10.1007\u002Fs11883-014-0439-8.","https:\u002F\u002Flink.springer.com\u002Farticle\u002F10.1007\u002Fs11883-014-0439-8",{"doi":986},"10.1007\u002Fs11883-014-0439-8",{"id":20,"text":988,"url":989,"identifiers":990},"Alnouri F, Athar M, Al-Allaf FA, et al. Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia. Atherosclerosis. 2018;277:425–33. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosis.2018.06.878.","https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosis.2018.06.878",{"mag":991,"openalex":992,"pm":993,"doi":994},"2893640078","W2893640078","30270081","10.1016\u002Fj.atherosclerosis.2018.06.878",{"id":462,"text":996,"url":464,"identifiers":997},"Kim YR, Han KH. Familial hypercholesterolemia and the atherosclerotic disease. Korean Circ J. 2013;43:363–7.",{"doi":466},{"id":20,"text":999,"url":1000,"identifiers":1001},"Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013;34:3478–3490a. https:\u002F\u002Fdoi.org\u002F10.1093\u002Feurheartj\u002Feht273.","https:\u002F\u002Fdoi.org\u002F10.1093\u002Feurheartj\u002Feht273",{"mag":1002,"pmc":1003,"openalex":1004,"pm":1005,"doi":1006},"2165624352","3844152","W2165624352","23956253","10.1093\u002Feurheartj\u002Feht273",{"id":462,"text":1008,"url":464,"identifiers":1009},"Cenarro A, Etxebarria A, de Castro-Orós I, et al. The p. Leu167del mutation in APOE gene causes autosomal dominant hypercholesterolemia by down-regulation of LDL receptor expression in hepatocytes. J Clin Endocrinol Metab. 2016;101:2113–21.",{"doi":466},{"id":20,"text":1011,"url":1012,"identifiers":1013},"Civeira F, Plana N. Treatment of heterozygous familial hypercholesterolemia in children and adolescents: an unsolved problem. Revista Española de Cardiología (Engl Ed). 2017;70:423–4. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.rec.2017.02.008.","https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.rec.2017.02.008",{"mag":1014,"openalex":1015,"pm":1016,"doi":1017},"2592046888","W2592046888","28284630","10.1016\u002Fj.rec.2017.02.008",{"id":462,"text":1019,"url":464,"identifiers":1020},"Creider J, Hegele R. Clinical evaluation for genetic and secondary causes of dyslipidemia. In: Elsevier (ed) Clinical lipidology, 2nd ed. Philadelphia (USA), 2015, p. 128–34.",{"doi":466},{"id":462,"text":1022,"url":464,"identifiers":1023},"Bambauer R, Bambauer C, Lehmann B, et al. LDL-apheresis: technical and clinical aspects. Sci World J; 2012.",{"doi":466},{"id":462,"text":1025,"url":464,"identifiers":1026},"Blaha V, Blaha M, Lanska M, et al. Lipoprotein apheresis in the treatment of dyslipidemia–the Czech Republic Experience. Physiol Res. 2017;66:S91.",{"doi":466},{"id":462,"text":1028,"url":464,"identifiers":1029},"Stefanutti C, Zenti MG. Lipoprotein apheresis and PCSK9-inhibitors. Impact on atherogenic lipoproteins and anti-inflammatory mediators in familial hypercholesterolaemia. Curr Pharm Des. 2018;24:3634–7.",{"doi":466},{"id":462,"text":1031,"url":464,"identifiers":1032},"Blaha V, Blaha M, Solichova D, et al. Antioxidant defense system in familial hypercholesterolemia and the effects of lipoprotein apheresis. Atheroscler Suppl. 2017;30:159–65.",{"doi":466},{"id":462,"text":1034,"url":464,"identifiers":1035},"Chepelenko GV. Pathogenesis of atherosclerosis in patients with lipid metabolism disturbances: hypothesis on cholesterol utilization and atheromatous plaque formation. Angiol Sosud Khir. 2003;9:20–5.",{"doi":466},{"id":20,"text":1037,"url":1038,"identifiers":1039},"Ridker PM, Silvertown JD. Inflammation, C-reactive protein, and atherothrombosis. J Periodontol. 2008;79:1544–51. https:\u002F\u002Fdoi.org\u002F10.1902\u002Fjop.2008.080249.","https:\u002F\u002Fdoi.org\u002F10.1902\u002Fjop.2008.080249",{"mag":1040,"openalex":1041,"pm":1042,"doi":1043},"2076390969","W2076390969","18673009","10.1902\u002Fjop.2008.080249",{"id":462,"text":1045,"url":464,"identifiers":1046},"Hajilooi M, Sanati A, Ahmadieh A, et al. Circulating ICAM-1, VCAM-1, E-selectin, P-selectin, and TNFRII in patients with coronary artery disease. Immunol Invest. 2004;33:263–75.",{"doi":466},{"id":1048,"text":1049,"url":1050,"identifiers":1051},"24bcf137-18be-4eb7-a8b7-97f95d960e63","Szabolcs MJ, Cannon PJ, Thienel U, et al. Analysis of CD154 and CD40 expression in native coronary atherosclerosis and transplant associated coronary artery disease. Virchows Arch. 2000;437:149–59.","http:\u002F\u002Flink.springer.com\u002F10.1007\u002Fs004280000215",{"doi":1052},"10.1007\u002Fs004280000215",{"id":462,"text":1054,"url":464,"identifiers":1055},"Blaha M, Krejsek J, Blaha V, et al. Selectins and monocyte chemotactic peptide as the markers of atherosclerosis activity. Physiol Res. 2004;53:273–8.",{"doi":466},{"id":20,"text":1057,"url":1058,"identifiers":1059},"Schoonderwoerd MJA, Goumans MTH, Hawinkels L. Endoglin: beyond the endothelium. Biomolecules. 2020. https:\u002F\u002Fdoi.org\u002F10.3390\u002Fbiom10020289.","https:\u002F\u002Fdoi.org\u002F10.3390\u002Fbiom10020289",{"mag":1060,"pmc":1061,"openalex":1062,"pm":1063,"doi":1064},"3005783872","7072477","W3005783872","32059544","10.3390\u002Fbiom10020289",{"id":462,"text":1066,"url":464,"identifiers":1067},"Blann AD, Wang JM, Wilson PB, et al. Serum levels of the TGF-beta receptor are increased in atherosclerosis. 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FASEB J. 2019. https:\u002F\u002Fdoi.org\u002F10.1096\u002Ffj.201802245R.","https:\u002F\u002Fdoi.org\u002F10.1096\u002Ffj.201802245r",{"mag":1080,"openalex":1081,"pm":1082,"doi":1083},"2913819326","W2913819326","30753095","10.1096\u002Ffj.201802245r",{"id":462,"text":1085,"url":464,"identifiers":1086},"Strasky Z, Vecerova L, Rathouska J, et al. Cholesterol effects on endoglin and its downstream pathways in ApoE\u002FLDLR double knockout mice. Circ J. 2011;75:1747–55.",{"doi":466},{"id":1088,"text":1089,"url":1090,"identifiers":1091},"5701121e-3fe0-467d-be1b-a0cf18dd0fa7","Rathouska J, Vecerova L, Strasky Z, et al. Endoglin as a possible marker of atorvastatin treatment benefit in atherosclerosis. Pharmacol Res. 2011;64:53–9. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.phrs.2011.03.008.","https:\u002F\u002Fwww.sciencedirect.com\u002Fscience\u002Farticle\u002Fpii\u002FS1043661811000727",{"doi":1092},"10.1016\u002Fj.phrs.2011.03.008",{"id":462,"text":1094,"url":464,"identifiers":1095},"Mach F, Baigent C, Catapano AL, et al. 2019 ESC\u002FEAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Atherosclerosis. 2019;290:140–205.",{"doi":466},{"id":20,"text":1097,"url":1098,"identifiers":1099},"Adults EPoDEaToHBCi. Executive summary of the third report of the national cholesterol education program (NCEP) expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (adult treatment panel III). JAMA: J Am Med Assoc. 2001;285: 2486–97. https:\u002F\u002Fdoi.org\u002F10.1001\u002Fjama.285.19.2486.","https:\u002F\u002Fdoi.org\u002F10.1001\u002Fjama.285.19.2486",{"openalex":1100,"pm":1101,"doi":1102},"W4238251256","11368702","10.1001\u002Fjama.285.19.2486",{"id":20,"text":1104,"url":1105,"identifiers":1106},"Parham JS, Goldberg AC. Mipomersen and its use in familial hypercholesterolemia. Expert Opin Pharmacother. 2019;20:127–31. https:\u002F\u002Fdoi.org\u002F10.1080\u002F14656566.2018.1550071.","https:\u002F\u002Fdoi.org\u002F10.1080\u002F14656566.2018.1550071",{"mag":1107,"pmc":1108,"openalex":1109,"pm":1110,"doi":1111},"2904905844","6438693","W2904905844","30526168","10.1080\u002F14656566.2018.1550071",{"id":20,"text":1113,"url":1114,"identifiers":1115},"Bruckert E, Gallo A. Is lomitapide a life-saving drug in homozygous familial hypercholesterolemia. Eur J Prev Cardiol. 2017;24:1841–2. https:\u002F\u002Fdoi.org\u002F10.1177\u002F2047487317734387.","https:\u002F\u002Fdoi.org\u002F10.1177\u002F2047487317734387",{"mag":1116,"openalex":1117,"pm":1118,"doi":1119},"2758760329","W2758760329","28952803","10.1177\u002F2047487317734387",{"id":20,"text":1121,"url":1122,"identifiers":1123},"Kroon AA, Van’Hof MA, Demacker PN, et al. The rebound of lipoproteins after LDL-apheresis Kinetics and estimation of mean lipoprotein levels. Atherosclerosis. 2000;152:519–26. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fs0021-9150(00)00371-3.","https:\u002F\u002Fdoi.org\u002F10.1016\u002Fs0021-9150(00)00371-3",{"mag":1124,"openalex":1125,"pm":1126,"doi":1127},"2088794717","W2088794717","10998482","10.1016\u002Fs0021-9150(00)00371-3",{"id":20,"text":1129,"url":1130,"identifiers":1131},"Beliard S, Gallo A, Duchene E, et al. Lipoprotein-apheresis in familial hypercholesterolemia: Long-term patient compliance in a French cohort. Atherosclerosis. 2018;277:66–71. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosis.2018.08.007.","https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosis.2018.08.007",{"mag":1132,"openalex":1133,"pm":1134,"doi":1135},"2887400496","W2887400496","30176566","10.1016\u002Fj.atherosclerosis.2018.08.007",{"id":20,"text":1137,"url":1138,"identifiers":1139},"Kolovou G, Hatzigeorgiou G, Mihas C, et al. Changes in lipids and lipoproteins after selective LDL apheresis (7-year experience). Cholesterol. 2012;2012:976578. https:\u002F\u002Fdoi.org\u002F10.1155\u002F2012\u002F976578.","https:\u002F\u002Fdoi.org\u002F10.1155\u002F2012\u002F976578",{"mag":1140,"pmc":1141,"openalex":1142,"pm":1143,"doi":1144},"2042060579","3270529","W2042060579","22315677","10.1155\u002F2012\u002F976578",{"id":20,"text":1146,"url":1147,"identifiers":1148},"Makino H, Harada-Shiba M. Long-term effect of low-density lipoprotein apheresis in patients with homozygous familial hypercholesterolemia. Therapeutic Apher Dial. 2003;7:397–401. https:\u002F\u002Fdoi.org\u002F10.1046\u002Fj.1526-0968.2003.00073.x.","https:\u002F\u002Fdoi.org\u002F10.1046\u002Fj.1526-0968.2003.00073.x",{"mag":1149,"openalex":1150,"pm":1151,"doi":1152},"2168699093","W2168699093","12887721","10.1046\u002Fj.1526-0968.2003.00073.x",{"id":20,"text":1154,"url":1155,"identifiers":1156},"Masaki N, Tatami R, Kumamoto T, et al. Ten-year follow-up of familial hypercholesterolemia patients after intensive cholesterol-lowering therapy. Int Heart J. 2005;46:833–43. https:\u002F\u002Fdoi.org\u002F10.1536\u002Fihj.46.833.","https:\u002F\u002Fdoi.org\u002F10.1536\u002Fihj.46.833",{"mag":1157,"openalex":1158,"pm":1159,"doi":1160},"2000511027","W2000511027","16272774","10.1536\u002Fihj.46.833",{"id":20,"text":1162,"url":1163,"identifiers":1164},"Orsoni A, Saheb S, Levels JH, et al. LDL-apheresis depletes apoE-HDL and pre-beta1-HDL in familial hypercholesterolemia: relevance to atheroprotection. J Lipid Res. 2011;52:2304–13. https:\u002F\u002Fdoi.org\u002F10.1194\u002Fjlr.P016816.","http:\u002F\u002Fdx.doi.org\u002F10.1194\u002Fjlr.p016816",{"doi":1165},"10.1194\u002Fjlr.p016816",{"id":1167,"text":1168,"url":1169,"identifiers":1170},"c28f2ff0-b321-4f39-a3d1-a10954bdd2cc","Neumann CL, Schulz EG, Hagenah GC, et al. Lipoprotein apheresis – More than just cholesterol reduction? Atheroscler Suppl. 2013;14:29–32. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosissup.2012.10.017.","https:\u002F\u002Fwww.sciencedirect.com\u002Fscience\u002Farticle\u002Fpii\u002FS1567568812000281",{"doi":1171},"10.1016\u002Fj.atherosclerosissup.2012.10.017",{"id":462,"text":1173,"url":464,"identifiers":1174},"Higashi Y, Noma K, Yoshizumi M, et al. Endothelial function and oxidative stress in cardiovascular diseases. Circ J. 2009;73:411–8.",{"doi":466},{"id":20,"text":1176,"url":1177,"identifiers":1178},"van Wijk DF, Sjouke B, Figueroa A, et al. Nonpharmacological lipoprotein apheresis reduces arterial inflammation in familial hypercholesterolemia. J Am Coll Cardiol. 2014;64:1418–26. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.jacc.2014.01.088.","https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.jacc.2014.01.088",{"mag":1179,"openalex":1180,"pm":1181,"doi":1182},"2008955812","W2008955812","25277610","10.1016\u002Fj.jacc.2014.01.088",{"id":1184,"text":1185,"url":1186,"identifiers":1187},"db0f39fc-caaa-40bf-bab4-3709a9fa95d4","Utsumi K, Kawabe M, Hirama A, et al. Effects of selective LDL apheresis on plasma concentrations of ICAM-1, VCAM-1 and P-selectin in diabetic patients with arteriosclerosis obliterans and receiving maintenance hemodialysis. Clin Chim Acta. 2007;377:198–200. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.cca.2006.09.026.","https:\u002F\u002Fwww.sciencedirect.com\u002Fscience\u002Farticle\u002Fpii\u002FS0009898106006280",{"doi":1188},"10.1016\u002Fj.cca.2006.09.026",{"id":20,"text":1190,"url":1191,"identifiers":1192},"Kobayashi S, Oka M, Moriya H, et al. LDL-apheresis reduces P-Selectin, CRP and fibrinogen – possible important implications for improving atherosclerosis. Ther Apher Dial. 2006;10:219–23. https:\u002F\u002Fdoi.org\u002F10.1111\u002Fj.1744-9987.2006.00332.x.","https:\u002F\u002Fdoi.org\u002F10.1111\u002Fj.1744-9987.2006.00332.x",{"mag":1193,"openalex":1194,"pm":1195,"doi":1196},"1970743796","W1970743796","16817784","10.1111\u002Fj.1744-9987.2006.00332.x",{"id":462,"text":1198,"url":464,"identifiers":1199},"Sampietro T, Tuoni M, Ferdeghini M, et al. Plasma cholesterol regulates soluble cell adhesion molecule expression in familial hypercholesterolemia. Circulation. 1997;96:1381–5.",{"doi":466},{"id":462,"text":1201,"url":464,"identifiers":1202},"Empen K, Otto C, Brödl UC, et al. The effects of three different LDL-apheresis methods on the plasma concentrations of E-selectin, VCAM-1, and ICAM-1. J Clin Apher. 2002;17:38–43.",{"doi":466},{"id":462,"text":1204,"url":464,"identifiers":1205},"Pulawski E, Mellwig KP, Brinkmann T, et al. Influence of single low-density lipoprotein apheresis on the adhesion molecules soluble vascular cellular adhesion molecule-1, soluble intercellular adhesion molecule-1, and P-selectin. Ther Apher. 2002;6:229–33.",{"doi":466},{"id":1207,"text":1208,"url":1209,"identifiers":1210},"bd7e7186-47c1-435d-aec7-2934b4634da5","Dlouha D, Blaha M, Blaha V, et al. analysis of circulating miRNAs in patients with familial hypercholesterolaemia treated by LDL\u002FLp(a) apheresis. Atheroscler Suppl. 2017;30:128–34. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosissup.2017.05.037.","https:\u002F\u002Fwww.sciencedirect.com\u002Fscience\u002Farticle\u002Fpii\u002FS156756881730079X",{"doi":1211},"10.1016\u002Fj.atherosclerosissup.2017.05.037",{"id":20,"text":1213,"url":1214,"identifiers":1215},"Rathouska J, Jezkova K, Nemeckova I, et al. Soluble endoglin, hypercholesterolemia and endothelial dysfunction. Atherosclerosis. 2015;243:383–8. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosis.2015.10.003.","https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosis.2015.10.003",{"mag":1216,"openalex":1217,"pm":1218,"doi":1219},"1904096699","W1904096699","26520890","10.1016\u002Fj.atherosclerosis.2015.10.003",{"id":20,"text":1221,"url":1222,"identifiers":1223},"Blazquez-Medela AM, Garcia-Ortiz L, Gomez-Marcos MA, et al. Increased plasma soluble endoglin levels as an indicator of cardiovascular alterations in hypertensive and diabetic patients. BMC Med. 2010;8:86. https:\u002F\u002Fdoi.org\u002F10.1186\u002F1741-7015-8-86.","https:\u002F\u002Fdoi.org\u002F10.1186\u002F1741-7015-8-86",{"mag":1224,"pmc":1225,"openalex":1226,"pm":1227,"doi":1228},"2011593158","3012013","W2011593158","21171985","10.1186\u002F1741-7015-8-86",{"id":20,"text":1230,"url":1231,"identifiers":1232},"Gallardo-Vara E, Gamella-Pozuelo L, Perez-Roque L, et al. Potential role of circulating endoglin in hypertension via the upregulated expression of BMP4. Cells. 2020. https:\u002F\u002Fdoi.org\u002F10.3390\u002Fcells9040988.","http:\u002F\u002Fdx.doi.org\u002F10.3390\u002Fcells9040988",{"doi":1233},"10.3390\u002Fcells9040988",{"id":1235,"text":1236,"url":1237,"identifiers":1238},"24662e08-a559-4abe-a3cd-a0f24111c9c7","Vitverova B, Blazickova K, Najmanova I, et al. Soluble endoglin and hypercholesterolemia aggravate endothelial and vessel wall dysfunction in mouse aorta. Atherosclerosis. 2018;271:15–25. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosis.2018.02.008.","https:\u002F\u002Fwww.sciencedirect.com\u002Fscience\u002Farticle\u002Fpii\u002FS0021915018300674",{"doi":1239},"10.1016\u002Fj.atherosclerosis.2018.02.008",{"id":1207,"text":1241,"url":1209,"identifiers":1242},"Dlouha D, Blaha M, Blaha V, et al. analysis of circulating miRNAs in patients with familial hypercholesterolaemia treated by LDL\u002FLp (a) apheresis. Atherosclerosis Supplements. 2017;30:128–34.",{"doi":1211},{"id":1244,"text":1245,"url":1246,"identifiers":1247},"dd6c355b-d2a7-488c-916d-47e269d4ebd9","Vaverkova H, Tichy L, Karasek D, et al. A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene. J Clin Lipidol. 2019;13:405–10.","https:\u002F\u002Fwww.sciencedirect.com\u002Fscience\u002Farticle\u002Fpii\u002FS1933287419300388",{"doi":1248},"10.1016\u002Fj.jacl.2019.02.003",{"id":20,"text":1250,"url":1251,"identifiers":1252},"Blaha M, Cermanova M, Blaha V, et al. Safety and tolerability of long lasting LDL-apheresis in familial hyperlipoproteinemia. Ther Apher Dial. 2007;11:9–15. https:\u002F\u002Fdoi.org\u002F10.1111\u002Fj.1744-9987.2007.00450.x.","https:\u002F\u002Fdoi.org\u002F10.1111\u002Fj.1744-9987.2007.00450.x",{"mag":1253,"openalex":1254,"pm":1255,"doi":1256},"1986032828","W1986032828","17309569","10.1111\u002Fj.1744-9987.2007.00450.x",{"id":462,"text":1258,"url":464,"identifiers":1259},"Solichova D, Melichar B, Blaha V, et al. Biochemical profile and survival in nonagenarians. Clin Biochem. 2001;34:563–9.",{"doi":466},{"id":20,"text":1261,"url":1262,"identifiers":1263},"Blaha M, Kostal M, Lanska M, et al. The decrease of mean platelet volume after extracorporeal LDL-cholesterol elimination. Atheroscler Suppl. 2013;14:77–81. https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosissup.2012.10.019.","https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.atherosclerosissup.2012.10.019",{"mag":1264,"openalex":1265,"pm":1266,"doi":1267},"2056332460","W2056332460","23357146","10.1016\u002Fj.atherosclerosissup.2012.10.019",{"id":1269,"text":1270,"url":1271,"identifiers":1272},"65c90a02-437c-403c-8fb9-de229492c56f","Blaha M, Zadak Z, Blaha V, et al. Extracorporeal LDL cholesterol elimination (25 years of experience in CZ). Atheroscler Suppl. 2009;10:17–20. https:\u002F\u002Fdoi.org\u002F10.1016\u002FS1567-5688(09)71804-5.","https:\u002F\u002Fwww.sciencedirect.com\u002Fscience\u002Farticle\u002Fpii\u002FS1567568809718045",{"doi":1273},"10.1016\u002Fs1567-5688(09)71804-5",{"id":20,"text":1275,"url":1276,"identifiers":1277},"Blaha M, Pecka M, Urbankova J, et al. Activity of thrombocytes as a marker of sufficient intensity of LDL-apheresis in familial hypercholesterolaemia. 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D, Northrup H, on behalf of the International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology. 2013;49:255–65.",{"doi":1530},"10.1016\u002Fj.pediatrneurol.2013.08.002",{"id":20,"text":1532,"url":20,"identifiers":1533},"de Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, Ess KC, et al. Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist. Pediatric Neurology. 2015;52:25–35.",{"doi":1534},"10.1016\u002Fj.pediatrneurol.2014.10.004",{"id":20,"text":1536,"url":20,"identifiers":1537},"Gipson TT, Gerner G, Wilson MA, Blue ME, Johnston MV. Potential for treatment of severe autism in tuberous sclerosis complex. World J Clin Pediatr. 2013;2(3):16–25.",{"doi":1538},"10.5409\u002Fwjcp.v2.i3.16",{"id":20,"text":1540,"url":20,"identifiers":1541},"Vignoli A, La Briola F, Turner K, Scornavacca G, Chiesa V, Zambrelli E, et al. Epilepsy in TSC: certain etiology does not mean certain prognosis. Epilepsia. 2013;54(12):2134–42.",{"doi":1542},"10.1111\u002Fepi.12430",{"id":20,"text":1544,"url":20,"identifiers":1545},"Gutierrez GC, Smalley SL, Tanguay PE. Autism in Tuberous Sclerosis Complex. Journal of Autism and Developmental Disorders. 1998;28(2):97–103.",{"doi":1546},"10.1023\u002FA:1026032413811",{"id":20,"text":1548,"url":20,"identifiers":1549},"Kaczorowska M, Jurkiewicz E, Domańska-Pakieła D, Syczewska M, Lojszczyk B, Chmielewski D, et al. Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex. Epilepsia. 2011;52(1):22–7.",{"doi":1550},"10.1111\u002Fj.1528-1167.2010.02892.x",{"id":20,"text":1552,"url":20,"identifiers":1553},"Bolton PF, Park RJ, Higgins NP, Griffiths PD, Pickles A. Neuro-epileptic determinants of autism spectrum disorder in Tuberous Sclerosis Complex. Brain. 2002;125:1247–55.",{"doi":1554},"10.1093\u002Fbrain\u002Fawf124",{"id":20,"text":1556,"url":20,"identifiers":1557},"Numis AL, Major P, Montenegro MA, Muzykewicz DA, Pulsifer MB, Thiele EA. Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology. 2011;76:981–7.",{"doi":1558},"10.1212\u002FWNL.0b013e3182104347",{"id":20,"text":1560,"url":20,"identifiers":1561},"van Eeghen AM, Pulsifer MB, Merker VL, Neumeyer AM, van Eeghen EE, Thibert RL, et al. Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach. Dev Med Child Neurol. 2013;55(2):146–53.",{"doi":1562},"10.1111\u002Fdmcn.12044",{"id":20,"text":1564,"url":20,"identifiers":1565},"Northrup H, Krueger DA. International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology. 2013;49(4):243–54.",{"doi":1566},"10.1016\u002Fj.pediatrneurol.2013.08.001",{"id":20,"text":1568,"url":20,"identifiers":1569},"Bramer GR. International statistical classification of diseases and related health problems. Tenth revision. World Health Stat Q. 1988;41(1):32–6.",{},{"id":20,"text":1571,"url":20,"identifiers":1572},"Rutter M, Bailey A, Lord C. Social Communication Questionnaire, manuale. Adattamento italiano a cura di Cianchetti C e Sannio Fancello G. Giunti O.S., 2007.",{},{"id":20,"text":1574,"url":20,"identifiers":1575},"Allen CW, Silove N, Williams K, Hutchins P. Validity of the Social Communication Questionnaire in assessing risk of autism in preschool children with developmental problems. J Autism Dev Disord. 2007;37(7):1272–8.",{"doi":1576},"10.1007\u002Fs10803-006-0279-7",{"id":20,"text":1578,"url":20,"identifiers":1579},"Granader YE, Bender HA, Zemon V, Rathi S, Nass R, Macallister WS. The clinical utility of the Social Responsiveness Scale and Social Communication Questionnaire in tuberous sclerosis complex. Epilepsy Behav. 2010;18(3):262–6.",{"doi":1580},"10.1016\u002Fj.yebeh.2010.04.010",{"id":20,"text":1582,"url":20,"identifiers":1583},"Mulligan A, Richardson T, Anney RJ, Gill M. The Social Communication Questionnaire in a sample of the general population of school-going children. Ir J Med Sci. 2009;178(2):193–9.",{"doi":1584},"10.1007\u002Fs11845-008-0184-5",{"id":20,"text":1586,"url":20,"identifiers":1587},"Curatolo P, Porfirio MC, Manzi B, Seri S. Autism in tuberous sclerosis. Eur J Paediatr Neurol. 2004;8(6):327–32.",{"doi":1588},"10.1016\u002Fj.ejpn.2004.08.005",{"id":20,"text":1590,"url":20,"identifiers":1591},"Ozonoff S. Evidence-based assessment of autism spectrum disorders in children and adolescents. J Clin Child Adolesc Psychol. 2005;34(3):523–40.",{"doi":1592},"10.1207\u002Fs15374424jccp3403_8",{"id":20,"text":1594,"url":20,"identifiers":1595},"Movsas TZ, Paneth N. The effect of gestational age on symptom severity in children with autism spectrum disorders. J Autism Dev Disord. 2012;42:2431–9.",{"doi":1596},"10.1007\u002Fs10803-012-1501-4",{"id":20,"text":1598,"url":20,"identifiers":1599},"Petres JM, Taquet M, Vega C, Jeste SS, Fernanndez IS, Tan J, et al. Warfield Sk. Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity. BMC Med. 2013;11:54–70.",{"doi":1600},"10.1186\u002F1741-7015-11-54",{"id":20,"text":1602,"url":20,"identifiers":1603},"Ruppe V, Dilsiz P, Reiss CS, Carlson C, Devinsky O, Zagzag D, et al. Developmental brain abnormalities in tuberous sclerosis complex: a comparative tissue analysis of cortical tubers and perituberal cortex. Epilepsia. 2014;55(4):539–50.",{"doi":1604},"10.1111\u002Fepi.12545",{"id":20,"text":1606,"url":20,"identifiers":1607},"Bombardieri R, Pinci M, Moavero R, Cerminara C, Curatolo P. Early control of seizures improves long-term outcome in children with tuberous sclerosis complex. Eur J Paediatr Neurol. 2010;14(2):146–9.",{"doi":1608},"10.1016\u002Fj.ejpn.2009.03.003",{"id":20,"text":1610,"url":20,"identifiers":1611},"Curatolo P, Jóźwiak S, Nabbout R. TSC Consensus Meeting for SEGA and Epilepsy Management. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol. 2012;16(6):582–6.",{"doi":1612},"10.1016\u002Fj.ejpn.2012.05.004",{"id":20,"text":1614,"url":20,"identifiers":1615},"Waltereit R, Japs B, Schneider M, de Vries PJ, Bartsch D. Epilepsy and Tsc2 haploinsufficiency lead to autistic-like social deficit behaviors in rats. Behav Genet. 2011;41(3):364–72.",{"doi":1616},"10.1007\u002Fs10519-010-9399-0",{"id":20,"text":1618,"url":20,"identifiers":1619},"Huang CH, Peng SS, Weng WC, Su YN, Lee WT, National Taiwan University Hospital Tuberous Sclerosis Complex (NTUH TSC) Study Group. The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex. J Formos Med Assoc 2014; Mar 31. doi: 10.1016\u002Fj.jfma.2014.02.008 [Epub ahead of print].",{"doi":1620},"10.1016\u002Fj.jfma.2014.02.008",{"id":20,"text":1622,"url":20,"identifiers":1623},"Hunt A, Stores G. Sleep disorders and epilepsy in children with tuberous sclerosis: a questionnaire-based study. Dev Med Child Neurol. 1994;36(2):108–15.",{"doi":1624},"10.1111\u002Fj.1469-8749.1994.tb11819.x",{"id":20,"text":1626,"url":20,"identifiers":1627},"Bruni O, Cortesi F, Giannotti F, Curatolo P. Sleep disorders in tuberous clerosis: a polysomnographic study. Brain Dev. 1995;17(1):52–6.",{"doi":1628},"10.1016\u002F0387-7604(94)00118-H",{"id":20,"text":1630,"url":20,"identifiers":1631},"van Eeghen AM, Numis AI, Staley BA, Therrien SE, Thibert RL. Thiele EA Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review. Epilepsy Behav. 2011;20(1):68–74.",{"doi":1632},"10.1016\u002Fj.yebeh.2010.10.023",{"id":20,"text":1634,"url":20,"identifiers":1635},"Muzykewicz DA, Newberry P, Danforth N, Halpern EF, Thiele EA. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav. 2007;11(4):506–13.",{"doi":1636},"10.1016\u002Fj.yebeh.2007.07.010",{"id":20,"text":1638,"url":20,"identifiers":1639},"Kopp CM, Muzykewicz DA, Staley BA, Thiele EA, Pulsifer MB. Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav. 2008;13(3):505–10.",{"doi":1640},"10.1016\u002Fj.yebeh.2008.05.010",{"id":20,"text":1642,"url":20,"identifiers":1643},"Eden KE, de Vries PJ, Moss J, Richards C, Oliver C. Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers. J Neurodev Disord. 2014;6(1):10.",{"doi":1644},"10.1186\u002F1866-1955-6-10",{"id":20,"text":1646,"url":20,"identifiers":1647},"Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of Tuberous Sclerosis Complex. Lancet Neurol. 2015;14:733–45.",{"doi":1648},"10.1016\u002FS1474-4422(15)00069-1",{"id":1650,"createTime":1651,"updateTime":1652,"relativeEntities":1653,"slug":1654,"properties":1655,"entityType":188,"verifyStatus":189,"verifyTime":1666,"verifyNote":191,"languages":20,"translateLanguages":20,"viewCount":21,"primaryUrl":1667,"fullTextUrl":20,"authors":1668,"publicationType":397,"publisherRelationship":1781,"citationCount":20,"citationInfo":20,"publishDate":1835,"publishYear":1518,"citationAnalyzeStatus":457,"lastCitationAnalyze":1652,"indexDatabases":1836,"openAccess":20,"references":20,"isForceReanalyzing":584},"adb0c2fa-1666-431f-8138-8e5d0b70c3f9","2023-11-30T14:00:52.569+00:00","2026-08-13T22:01:22.218+00:00",[],"Comprehensive-study-into-the-activation-of-the-plasma-enzyme-systems-during-attacks-of-hereditary-angioedema-due-to-C1-inhibitor-deficiency",{"abstract":1656,"title":1658,"gsPaper":1660,"references":1662,"doi":1664},{"EN":1657},"The activation of plasma enzyme systems contributes to hereditary angioedema attacks. We aimed to study the activation markers of the fibrinolytic, coagulation, and contact systems in a larger number of paired samples obtained from the same C1-INH-HAE patients in symptom-free periods and during attacks. Eleven parameters (Factors XI, XII, and C1-inhibitor activity; the concentrations of the D-dimer, prothrombin fragments 1 + 2, plasminogen, plasminogen activator inhibitor-1 [PAI-1], thrombin-anti-thrombin III [TAT] complex, fibrinogen) were measured along with prothrombin time and activated partial thromboplastin time (aPTT), using commercial kits. We compared these markers in samples obtained from the same 39 patients during attack-free periods and during 62 edematous episodes. Forty healthy subjects of matching sex and age served as controls. Compared with the healthy controls, significantly higher FXI and FXII activity (p = 0.0007, p = 0.005), as well as D-dimer (p \u003C 0.0001), prothrombin fragments 1 + 2 (p \u003C 0.0001), and TAT (p = 0.0303) levels were ascertained in the patients during symptom-free periods. The evaluation of samples from symptom-free periods or obtained during attacks revealed the increase of FXII activity, as well as of the concentration of D-dimer, prothrombin fragments 1 + 2, and TAT during edematous episodes. PAI-1 level, prothrombin time, and aPTT decreased significantly during attacks, compared with symptom-free periods. D-dimer level was significantly higher during multiple- vs. single-site attacks. Comparing a large number of paired samples from symptom-free periods or from edematous episodes allowed accurate appraisal of the changes occurring during attacks. Moreover, our study pointed out that individual episodes may be characterized by different marker patterns.",{"EN":1659},"Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency",{"VOID":1661},"[\"309543173246476058\"]",{"VOID":1663},"Zeerleder S. C1-inhibitor: more than a serine protease inhibitor. Semin Thromb Hemost. 2011;37(4):362–74. doi:10.1055\u002Fs-0031-1276585.\nForbes CD, Pensky J, Ratnoff OD. Inhibition of activated Hageman factor and activated plasma thromboplastin antecedent by purified serum C1 inactivator. J Lab Clin Med. 1970;76(5):809–15.\nvan der Graaf F, Keus JF, Koedam JA, Rietveld A, Bouma BN. Prekallikrein activation and kallikrein inactivation in human plasma. Adv Exp Med Biol. 1983;156:143–8.\nWuillemin WA, Minnema M, Meijers JC, Roem D, Eerenberg AJ, Nuijens JH, et al. Inactivation of factor XIa in human plasma assessed by measuring factor XIa-protease inhibitor complexes: major role for C1-inhibitor. Blood. 1995;85(6):1517–26.\nPixley RA, Schapira M, Colman RW. The regulation of human factor XIIa by plasma proteinase inhibitors. J Biol Chem. 1985;260(3):1723–9.\nKannemeier C, Shibamiya A, Nakazawa F, Trusheim H, Ruppert C, Markart P, et al. Extracellular RNA constitutes a natural procoagulant cofactor in blood coagulation. Proc Natl Acad Sci U S A. 2007;104(15):6388–93. doi:10.1073\u002Fpnas.0608647104.\nMaas C, Govers-Riemslag JW, Bouma B, Schiks B, Hazenberg BP, Lokhorst HM, et al. Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation. J Clin Invest. 2008;118(9):3208–18. doi:10.1172\u002FJCI35424.\nSmith SA, Choi SH, Davis-Harrison R, Huyck J, Boettcher J, Rienstra CM, et al. Polyphosphate exerts differential effects on blood clotting, depending on polymer size. Blood. 2010;116(20):4353–9. doi:10.1182\u002Fblood-2010-01-266791.\nMuller F, Mutch NJ, Schenk WA, Smith SA, Esterl L, Spronk HM, et al. Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo. Cell. 2009;139(6):1143–56. doi:10.1016\u002Fj.cell.2009.11.001.\nHerwald H, Morgelin M, Olsen A, Rhen M, Dahlback B, Muller-Esterl W, et al. Activation of the contact-phase system on bacterial surfaces--a clue to serious complications in infectious diseases. Nat Med. 1998;4(3):298–302.\nJoseph K, Shibayama Y, Ghebrehiwet B, Kaplan AP. Factor XII-dependent contact activation on endothelial cells and binding proteins gC1qR and cytokeratin 1. Thromb Haemost. 2001;85(1):119–24.\nZotter Z, Csuka D, Szabo E, Czaller I, Nebenfuhrer Z, Temesszentandrasi G, et al. The influence of trigger factors on hereditary angioedema due to C1-inhibitor deficiency. Orphanet J Rare Dis. 2014;9:44. doi:10.1186\u002F1750-1172-9-44.\nKaplan AP. Enzymatic pathways in the pathogenesis of hereditary angioedema: the role of C1 inhibitor therapy. J Allergy Clin Immunol. 2010;126(5):918–25. doi:10.1016\u002Fj.jaci.2010.08.012.\nCugno M, Cicardi M, Bottasso B, Coppola R, Paonessa R, Mannucci PM, et al. Activation of the coagulation cascade in C1-inhibitor deficiencies. Blood. 1997;89(9):3213–8.\nGarcia JG, Pavalko FM, Patterson CE. Vascular endothelial cell activation and permeability responses to thrombin. Blood Coagul Fibrinolysis. 1995;6(7):609–26.\nGarcia JG, Siflinger-Birnboim A, Bizios R, Del Vecchio PJ, Fenton 2nd JW, Malik AB. Thrombin-induced increase in albumin permeability across the endothelium. J Cell Physiol. 1986;128(1):96–104. doi:10.1002\u002Fjcp.1041280115.\nDeMichele MA, Moon DG, Fenton 2nd JW, Minnear FL. Thrombin’s enzymatic activity increases permeability of endothelial cell monolayers. J Appl Physiol. 1990;69(5):1599–606.\nOschatz C, Maas C, Lecher B, Jansen T, Bjorkqvist J, Tradler T, et al. Mast cells increase vascular permeability by heparin-initiated bradykinin formation in vivo. Immunity. 2011;34(2):258–68. doi:10.1016\u002Fj.immuni.2011.02.008.\nBossi F, Fischetti F, Regoli D, Durigutto P, Frossi B, Gobeil Jr F, et al. Novel pathogenic mechanism and therapeutic approaches to angioedema associated with C1 inhibitor deficiency. J Allergy Clin Immunol. 2009;124(6):1303–10. doi:10.1016\u002Fj.jaci.2009.08.007.\nBrown NJ, Gainer JV, Stein CM, Vaughan DE. Bradykinin stimulates tissue plasminogen activator release in human vasculature. Hypertension. 1999;33(6):1431–5.\nOkada H, Watanabe Y, Kikuta T, Kobayashi T, Kanno Y, Sugaya T, et al. Bradykinin decreases plasminogen activator inhibitor-1 expression and facilitates matrix degradation in the renal tubulointerstitium under angiotensin-converting enzyme blockade. J Am Soc Nephrol. 2004;15(9):2404–13. doi:10.1097\u002F01.ASN.0000136132.20189.95.\nColman RW, Bagdasarian A, Talamo RC, Scott CF, Seavey M, Guimaraes JA, et al. Williams trait. Human kininogen deficiency with diminished levels of plasminogen proactivator and prekallikrein associated with abnormalities of the Hageman factor-dependent pathways. J Clin Invest. 1975;56(6):1650–62. doi:10.1172\u002FJCI108247.\nGhebrehiwet B, Randazzo BP, Dunn JT, Silverberg M, Kaplan AP. Mechanisms of activation of the classical pathway of complement by Hageman factor fragment. J Clin Invest. 1983;71(5):1450–6.\nSchmaier AH. Contact activation: a revision. Thromb Haemost. 1997;78(1):101–7.\nKaplan AP, Austen KF. A prealbumin activator of prekallikrein. II. Derivation of activators of prekallikrein from active Hageman factor by digestion with plasmin. J Exp Med. 1971;133(4):696–712.\nKleniewski J, Blankenship DT, Cardin AD, Donaldson V. Mechanism of enhanced kinin release from high molecular weight kininogen by plasma kallikrein after its exposure to plasmin. J Lab Clin Med. 1992;120(1):129–39.\nNielsen EW, Morrissey J, Olsen JO, Osterud B. Factor VIIa in patients with C1-inhibitor deficiency. Thromb Haemost. 1995;74(4):1103–6.\nJoseph K, Tholanikunnel TE, Kaplan AP. Treatment of episodes of hereditary angioedema with C1 inhibitor: serial assessment of observed abnormalities of the plasma bradykinin-forming pathway and fibrinolysis. Ann Allergy Asthma Immunol. 2010;104(1):50–4. doi:10.1016\u002Fj.anai.2009.11.014.\nCugno M, Zanichelli A, Bellatorre AG, Griffini S, Cicardi M. Plasma biomarkers of acute attacks in patients with angioedema due to C1-inhibitor deficiency. Allergy. 2009;64(2):254–7. doi:10.1111\u002Fj.1398-9995.2008.01859.x.\nBowen T, Cicardi M, Farkas H, Bork K, Longhurst HJ, Zuraw B, et al. 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema. Allergy Asthma Clin Immunol. 2010;6(1):24. doi:10.1186\u002F1710-1492-6-24.\nClauss A. Rapid physiological coagulation method in determination of fibrinogen. Acta Haematol. 1957;17(4):237–46.\nCugno M, Cicardi M, Coppola R, Agostoni A. Activation of factor XII and cleavage of high molecular weight kininogen during acute attacks in hereditary and acquired C1-inhibitor deficiencies. Immunopharmacology. 1996;33(1–3):361–4.\nNielsen EW, Johansen HT, Hogasen K, Wuillemin W, Hack CE, Mollnes TE. Activation of the complement, coagulation, fibrinolytic and kallikrein-kinin systems during attacks of hereditary angioedema. Scand J Immunol. 1996;44(2):185–92.\nvan Geffen M, Cugno M, Lap P, Loof A, Cicardi M, van Heerde W. Alterations of coagulation and fibrinolysis in patients with angioedema due to C1-inhibitor deficiency. Clin Exp Immunol. 2012;167(3):472–8. doi:10.1111\u002Fj.1365-2249.2011.04541.x.\nReshef A, Zanichelli A, Longhurst H, Relan A, Hack CE. Elevated D-dimers in attacks of hereditary angioedema are not associated with increased thrombotic risk. Allergy. 2015;70(5):506–13. doi:10.1111\u002Fall.12587.\nLevi M, Toh CH, Thachil J, Watson HG. Guidelines for the diagnosis and management of disseminated intravascular coagulation. British Committee for Standards in Haematology. Br J Haematol. 2009;145(1):24–33. doi:10.1111\u002Fj.1365-2141.2009.07600.x.\nBloom AL. Intravascular coagulation and the liver. Br J Haematol. 1975;30(1):1–7.\nPottinger BE, Read RC, Paleolog EM, Higgins PG, Pearson JD. von Willebrand factor is an acute phase reactant in man. 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disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies with agalsidase alfa and beta have been available. In this letter we underline the different clinical and technical considerations the readers have to be aware of to interpret the results of studies dealing with Fabry disease and anti-agalsidase antibodies. We reaffirm that antibodies preferentially develop in the severe classic Fabry phenotype, which can mislead into interpreting that antibodies are associated with much severe clinical events.",{"EN":1847},"Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease",{"VOID":1849},"[\"15308175197198215705\"]",{"VOID":1851},"Mauhin W, Lidove O, Amelin D, Lamari F, Caillaud C, Mingozzi F, et al. Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY. Orphanet J Rare Dis 31 juill. 2018;13(1):127.\nLenders M, Schmitz B, Brand S-M, Brand E. Neutralizing anti-drug antibodies in Fabry disease have no obvious clinical impact? Orphanet J Rare Dis. 2018;13(1):171.\nLenders M, Schmitz B, Brand S-M, Foell D, Brand E. Characterization of drug-neutralizing antibodies in patients with Fabry disease during infusion. 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Recently, elamipretide has been tested as a potential first disease-modifying drug. This study aimed to identify patients with BTHS who may respond to elamipretide, based on continuous physiological measurements acquired through wearable devices.\u003C\u002Fjats:p>\n              \u003C\u002Fjats:sec>\u003Cjats:sec>\n                \u003Cjats:title>Results\u003C\u002Fjats:title>\n                \u003Cjats:p>Data from a randomized, double-blind, placebo-controlled crossover trial of 12 patients with BTHS were used, including physiological time series data measured using a wearable device (heart rate, respiratory rate, activity, and posture) and functional scores. The latter included the 6-minute walk test (6MWT), Patient-Reported Outcomes Measurement Information System (PROMIS) fatigue score, SWAY Balance Mobile Application score (SWAY balance score), BTHS Symptom Assessment (BTHS-SA) Total Fatigue score, muscle strength by handheld dynamometry, 5 times sit-and-stand test (5XSST), and monolysocardiolipin to cardiolipin ratio (MLCL:CL). Groups were created through median split of the functional scores into “highest score” and “lowest score”, and “best response to elamipretide” and “worst response to elamipretide”. Agglomerative hierarchical clustering (AHC) models were implemented to assess whether physiological data could classify patients according to functional status and distinguish non-responders from responders to elamipretide. AHC models clustered patients according to their functional status with accuracies of 60–93%, with the greatest accuracies for 6MWT (93%), PROMIS (87%), and SWAY balance score (80%). 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Barth syndrome. Orphanet J Rare Dis. 2013;8:23.",{"doi":2639},"10.1186\u002F1750-1172-8-23",{"id":20,"text":2641,"url":20,"identifiers":2642},"Ades LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet. 1993;45(3):327–34.",{"doi":2643},"10.1002\u002Fajmg.1320450309",{"id":20,"text":2645,"url":20,"identifiers":2646},"Bione S, D’Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. Is responsible for Barth syndrome. Nat Genet. 1996;12(4):385–9.",{"doi":2647},"10.1038\u002Fng0496-385",{"id":20,"text":2649,"url":20,"identifiers":2650},"Xu Y, Malhotra A, Ren M, Schlame M. The enzymatic function of tafazzin. J Biol Chem. 2006;281(51):39217–24.",{"doi":2651},"10.1074\u002Fjbc.M606100200",{"id":20,"text":2653,"url":20,"identifiers":2654},"Saric A, Andreau K, Armand AS, Moller IM, Petit PX. Barth Syndrome: from mitochondrial Dysfunctions Associated with aberrant production of reactive oxygen species to pluripotent stem cell studies. Front Genet. 2015;6:359.",{},{"id":20,"text":2656,"url":20,"identifiers":2657},"Szeto HH. First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics. Br J Pharmacol. 2014;171(8):2029–50.",{"doi":2658},"10.1111\u002Fbph.12461",{"id":20,"text":2660,"url":20,"identifiers":2661},"Zhao K, Zhao GM, Wu D, Soong Y, Birk AV, Schiller PW, Szeto HH. Cell-permeable peptide antioxidants targeted to inner mitochondrial membrane inhibit mitochondrial swelling, oxidative cell death, and reperfusion injury. J Biol Chem. 2004;279(33):34682–90.",{"doi":2662},"10.1074\u002Fjbc.M402999200",{"id":20,"text":2664,"url":20,"identifiers":2665},"Chatfield KC, Sparagna GC, Chau S, Phillips EK, Ambardekar AV, Aftab M, Mitchell MB, Sucharov CC, Miyamoto SD, Stauffer BL. Elamipretide improves mitochondrial function in the Failing Human Heart. JACC Basic Transl Sci. 2019;4(2):147–57.",{"doi":2666},"10.1016\u002Fj.jacbts.2018.12.005",{"id":20,"text":2668,"url":20,"identifiers":2669},"Szeto HH, Liu S. Cardiolipin-targeted peptides rejuvenate mitochondrial function, remodel mitochondria, and promote tissue regeneration during aging. Arch Biochem Biophys. 2018;660:137–48.",{"doi":2670},"10.1016\u002Fj.abb.2018.10.013",{"id":20,"text":2672,"url":20,"identifiers":2673},"Birk AV, Liu S, Soong Y, Mills W, Singh P, Warren JD, Seshan SV, Pardee JD, Szeto HH. The mitochondrial-targeted compound SS-31 re-energizes ischemic mitochondria by interacting with cardiolipin. J Am Soc Nephrol. 2013;24(8):1250–61.",{"doi":2674},"10.1681\u002FASN.2012121216",{"id":20,"text":2676,"url":20,"identifiers":2677},"Reid Thompson W, Hornby B, Manuel R, Bradley E, Laux J, Carr J, Vernon HJ. A phase 2\u002F3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism. Genet Med. 2021;23(3):471–8.",{"doi":2678},"10.1038\u002Fs41436-020-01006-8",{"id":20,"text":2680,"url":20,"identifiers":2681},"Harutyunyan H, Khachatrian H, Kale DC, Ver Steeg G, Galstyan A. Multitask learning and benchmarking with clinical time series data. Sci Data. 2019;6(1):96.",{"doi":2682},"10.1038\u002Fs41597-019-0103-9",{"id":20,"text":2684,"url":20,"identifiers":2685},"Natarajan A, Su HW, Heneghan C. Assessment of physiological signs associated with COVID-19 measured using wearable devices. NPJ Digit Med. 2020;3(1):156.",{"doi":2686},"10.1038\u002Fs41746-020-00363-7",{"id":20,"text":2688,"url":20,"identifiers":2689},"Laboratories ACoPSfCPF. ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med. 2002;166(1):111–7.",{"doi":2690},"10.1164\u002Fajrccm.166.1.at1102",{"id":20,"text":2692,"url":20,"identifiers":2693},"Hornby B, McClellan R, Buckley L, Carson K, Gooding T, Vernon HJ. Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome. Orphanet J Rare Dis. 2019;14(1):37.",{"doi":2694},"10.1186\u002Fs13023-019-1006-8",{"id":20,"text":2696,"url":20,"identifiers":2697},"Patterson JA, Amick RZ, Thummar T, Rogers ME. Validation of measures from the smartphone sway balance application: a pilot study. Int J Sports Phys Ther. 2014;9(2):135–9.",{},{"id":20,"text":2699,"url":20,"identifiers":2700},"Bohannon RW. Measuring knee extensor muscle strength. Am J Phys Med Rehabil. 2001;80(1):13–8.",{"doi":2701},"10.1097\u002F00002060-200101000-00004",{"id":20,"text":2703,"url":20,"identifiers":2704},"Christ M, Braun N, Neuffer J, Kempa-Liehr AW. Time Series FeatuRe extraction on basis of scalable hypothesis tests (tsfresh – a Python package). Neurocomputing. 2018;307:72–7.",{"doi":2705},"10.1016\u002Fj.neucom.2018.03.067",{"id":20,"text":2707,"url":20,"identifiers":2708},"Murtagh F, Contreras P. Algorithms for hierarchical clustering: an overview. WIREs Data Min Knowl Discov. 2011;2(1):86–97.",{"doi":2709},"10.1002\u002Fwidm.53",{"id":20,"text":2711,"url":20,"identifiers":2712},"Van den Eynde J, Manlhiot C, Van De Bruaene A, Diller GP, Frangi AF, Budts W, Kutty S. Medicine-Based evidence in congenital heart disease: how Artificial Intelligence can Guide Treatment decisions for individual patients. Front Cardiovasc Med. 2021;8:798215.",{"doi":2713},"10.3389\u002Ffcvm.2021.798215",{"id":20,"text":2715,"url":20,"identifiers":2716},"Kent DM, Steyerberg E, van Klaveren D. Personalized evidence based medicine: predictive approaches to heterogeneous treatment effects. BMJ. 2018;363:k4245.",{"doi":2717},"10.1136\u002Fbmj.k4245",{"id":20,"text":2719,"url":20,"identifiers":2720},"Manlhiot C, van den Eynde J, Kutty S, Ross HJ. A primer on the Present State and Future prospects for machine learning and Artificial Intelligence Applications in Cardiology. Can J Cardiol. 2022;38(2):169–84.",{"doi":2721},"10.1016\u002Fj.cjca.2021.11.009",{"id":20,"text":2723,"url":20,"identifiers":2724},"Van den Eynde J, Lachmann M, Laugwitz KL, Manlhiot C, Kutty S. Successfully implemented artificial intelligence and machine learning applications in cardiology: State-of-the-art review.Trends Cardiovasc Med. 2022.",{"doi":2725},"10.1016\u002Fj.tcm.2022.01.010",{"id":20,"text":2727,"url":20,"identifiers":2728},"Ma L, Vaz FM, Gu Z, Wanders RJ, Greenberg ML. The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. J Biol Chem. 2004;279(43):44394–9.",{"doi":2729},"10.1074\u002Fjbc.M405479200",{"id":2731,"createTime":2732,"updateTime":2733,"relativeEntities":2734,"slug":2735,"properties":2736,"entityType":188,"verifyStatus":189,"verifyTime":2747,"verifyNote":191,"languages":20,"translateLanguages":20,"viewCount":21,"primaryUrl":2748,"fullTextUrl":20,"authors":2749,"publicationType":397,"publisherRelationship":2814,"citationCount":2869,"citationInfo":2870,"publishDate":2874,"publishYear":2871,"citationAnalyzeStatus":2327,"lastCitationAnalyze":2875,"indexDatabases":2876,"openAccess":20,"references":20,"isForceReanalyzing":584},"8b6ee241-e78f-486b-80a8-0ffbead08fef","2023-12-06T17:27:50.513+00:00","2026-07-18T09:09:41.271+00:00",[],"Limitations-of-drug-registries-to-evaluate-orphan-medicinal-products-for-the-treatment-of-lysosomal-storage-disorders",{"abstract":2737,"title":2739,"gsPaper":2741,"references":2743,"doi":2745},{"EN":2738},"Orphan drugs are often approved under exceptional circumstances, requiring submission of additional data on safety and effectiveness through registries. These registries are mainly focused on one drug only and data is frequently incomplete. Some registries also address phenotypic heterogeneity and natural history data and publications on these aspects have contributed to the knowledge and awareness of these rare diseases. However, for the assessment of long-term outcomes and for cost-effectiveness, the incompleteness and variable quality of the data raises concerns on the usefulness of these registries. The existing registries for orphan drug treatments for lysosomal storage disorders (LSD's) illustrate these limitations. LSD's are inherited disorders of lysosomal metabolism with a wide variety in clinical symptoms, ranging from severe life-threatening neurological disease to mild or even asymptomatic cases. Their prevalence is extremely low and thus data is scarce and scattered all over Europe. In the past few years, several enzyme replacement therapies and an oral substrate inhibitor have been developed which provide lifelong treatment of LSD's. For Fabry disease, two enzymes were authorized at the same time resulting in two different drug registries being required by the European Medicines Agency (EMA) to monitor effectiveness and safety. This has lead to patient data being divided between two separate registries which may have contributed to delays in the assessment of important outcomes. Three treatments (including a recently approved new enzyme) have now been authorized for Gaucher Disease and two other potential therapies are in the pipeline. Dividing up the data on Gaucher disease patients in to five separate registries benefits nobody. We argue that disease specific (rather than drug specific) registries, supervised by independent clinicians are urgently needed for the best long-term evaluation of treatments of these rare diseases.",{"EN":2740},"Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders",{"VOID":2742},"[\"1502657079415311466\"]",{"VOID":2744},"Carroll K, Ross HC, Evans D, France L, Hemmings R, Hughes S, Lynn F, Mahoney P, Phillips A: Conditional approval: discussion points from the PSI conditional approval expert group. Pharm Stat. 2008, 7: 263-269. 10.1002\u002Fpst.309.\nRichesson R, Vehik K: Patient registries: utility, validity and inference. Adv Exp Med Biol. 2010, 686: 87-104. full_text.\nTen years of orphan medicines legislation in Europe - European Medicines Agency reviews success and looks ahead. [http:\u002F\u002Fwww.ema.europa.eu\u002Fpdfs\u002Fgeneral\u002Fdirect\u002Fpr\u002F29156010en.pdf].\nPoorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP: The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999, 105: 151-156.\nMeikle PJ, Hopwood JJ, Clague AE, Carey WF: Prevalence of lysosomal storage disorders. JAMA. 1999, 281: 249-254. 10.1001\u002Fjama.281.3.249.\nPinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcão A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sá Miranda MC: Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004, 12: 87-92. 10.1038\u002Fsj.ejhg.5201044.\nSpada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ: High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006, 79: 31-40. 10.1086\u002F504601.\nJones S, James E, Prasad S: Disease registries and outcomes research in children: focus on lysosomal storage disorders. Paediatr Drugs. 2011, 13: 33-47. 10.2165\u002F11586860-000000000-00000.\nDesnick R, Ioannou Y, Eng C: alpha-Galactosidase A deficiency: Fabry disease. 8edition. The Metabolic and Molecular Bases of Inherited Disease. Edited by: Scriver CR, Beaudet AL, Sly WS, Valle D. New York, McGraw-Hill; 2001, 3733-3774.\nRombach SM, Twickler TB, Aerts JM, Linthorst GE, Wijburg FA, Hollak CE: Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol Genet Metab. 2010, 99: 99-108. 10.1016\u002Fj.ymgme.2009.10.004.\nSchiffmann R, Kopp JB, Austin HA, Sabnis S, Moore DF, Weibel T, Ballow JE, Brady RO: Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001, 85: 2743-2749. 10.1001\u002Fjama.285.21.2743.\nEng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ, International Collaborative Fabry Disease Study Group: Safety and efficacy of recombinant human alfa-galactosidase A replacement therapy in Fabry's disease. N Engl J Med. 2001, 345: 9-16. 10.1056\u002FNEJM200107053450102.\nDeegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M, European FOS Investigators: Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006, 43: 347-352. 10.1136\u002Fjmg.2005.036327.\nWilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP, Fabry Registry: Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008, 93: 112-128. 10.1016\u002Fj.ymgme.2007.09.013.\nWanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, Serra AL, Maródi L, Mignani R, Cianciaruso B, Vujkovac B, Lemay R, Beitner-Johnson D, Waldek S, Warnock DG: Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol. 2010, 5: 2220-2228. 10.2215\u002FCJN.04340510.\nMehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, Sunder-Plassmann G, FOS Investigators: Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. J Med Genet. 2009, 46: 548-552. 10.1136\u002Fjmg.2008.065904.\nLinhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, Elliott PM, European FOS Investigators: Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007, 28: 1228-1235. 10.1093\u002Feurheartj\u002Fehm153.\nRamaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G, Widmer U, Beck M, FOS European Investigators: Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr. 2006, 95: 86-92. 10.1080\u002F08035250500275022.\nBeck M, Ricci R, Widmer U, Dehout F, de Lorenzo AG, Kampmann C, Linhart A, Sunder-Plassmann G, Houge G, Ramaswami U, Gal A, Mehta A: Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest. 2004, 34: 838-44. 10.1111\u002Fj.1365-2362.2004.01424.x.\nMehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT, Fabry Outcome Survey investigators: Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet. 2009, 374: 1986-1996. 10.1016\u002FS0140-6736(09)61493-8.\nRombach SM, Baas MC, ten Berge IJ, Krediet RT, Bemelman FJ, Hollak CE: The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease. Nephrol Dial Transplant. 2010, 25: 2549-2556. 10.1093\u002Fndt\u002Fgfq108.\nConnock M, Juarez-Garcia A, Frew E, Mans A, Dretzke J, Fry-Smith A, Moore D: A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type 1. Health Technol Assess. 2006, 10: 1-130.\nBreunig F, Weidemann F, Strotmann J, Knoll A, Wanner C: Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int. 2006, 69: 1216-1221. 10.1038\u002Fsj.ki.5000208.\nVedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, Aerts JM, Hirth A, Hollak CE: Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg\u002Fkg. PLoS One. 2007, 7:e598. 10.1371\u002Fjournal.pone.0000598.\nWeidemann F, Niemann M, Breunig F, Herrmann S, Beer M, Störk S, Voelker W, Ertl G, Wanner C, Strotmann J: Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. 2009, 119: 524-529. 10.1161\u002FCIRCULATIONAHA.108.794529.\nBeutler E, Grabowski GA: Gaucher Disease. 8edition. The Metabolic and Molecular Bases of Inherited Disease. Edited by: Scriver CR, Beaudet AL, Sly WS, Valle D. New York, McGraw-Hill; 2001, 3635-3668.\nBeutler E: The cost of treating Gaucher disease. Nature Medicine. 1996, 2: 523-524. 10.1038\u002Fnm0596-523.\nCurrent issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. JAMA. 1996, 275: 548-53. 10.1001\u002Fjama.275.7.548.\nWeinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A: Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002, 113: 112-119. 10.1016\u002FS0002-9343(02)01150-6.\nCharrow J, Dulisse B, Grabowski GA, Weinreb NJ: The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet. 2007, 71: 205-211. 10.1111\u002Fj.1399-0004.2007.00769.x.\nAndersson H, Kaplan P, Kacena K, Yee J: Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics. 2008, 122: 1182-1190. 10.1542\u002Fpeds.2007-2144.\nGrabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S: Dose-response relationships for enzyme replacement therapy with imiglucerase\u002Falglucerase in patients with Gaucher disease type 1. Genet Med. 2009, 11: 92-100. 10.1097\u002FGIM.0b013e31818e2c19.\nConnock M, Burls A, Frew E, Fry-Smith , Juarez-Garcia A, McCabe C, Wailoo A, Abrams K, Cooper N, Sutton A, O'Hagan A, Moore D: The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review. Health Technol Assess. 2006, 24: 1-136.\nCox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hrebicek M, Platt F, Butters T, Dwek R, Moyses C, Gow I, Elstein D, Zimran A: Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. 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