Đánh giá phòng thí nghiệm và di truyền của bệnh Gaucher

Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, Kinzler KW, Vogelstein B (eds) The metabolic and molecular basis of inherited disease, Vol. II. McGraw-Hill, Columbus, USA, pp 3635–3668, 2001 Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haemat, 129: 178–188, 2005 Tylki-Szymanska A, Czartoryska B, Vanier MT, et al. Non-neuronopathic Gaucher disease due to saposin C deficiency. Clin Genet, 72: 538–542, 2007 Staretz-Chacham O, Lang TC, LaMarca ME, et al. Lysosomal storage disorders in the newborn. Pediatrics, 123: 1191–1207, 2009 Sa Miranda MC, Aerts JM, Pinto R, et al. Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients. Clin Genet, 38: 97–99, 1990 Meivar-Levy I, Horowitz M, Futerman AH. Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease. Biochem J, 303: 377–382, 1994 Rudensky B, Paz E, Altarescu G, et al. Fluorescent flow cytometric assay: a new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease. Blood Cells Mol Dis, 30: 97–99, 2003 Li Y, Scott CR, Chamoles NA, et al. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem, 50: 1785–1796, 2004 Zhang XK, Elbin CS, Chuang WL, et al. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem, 54: 1725–1728, 2008 Choy FY. Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family. J Med Genet, 25: 322–325, 1988 Barak V, Acker M, Nisman B, et al. Cytokines in Gaucher's disease. Europ Cytokine Netw, 10: 205–210, 1999 Hollak CE, Evers L, Aerts JM, et al. Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease. Blood Cells Mol Dis, 23: 201–212, 1997 Hollak CE, VanWeely S, Van Oers MH, et al. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest, 93: 1288–1292, 1994 Schoonhoven A, Rudensky B, Elstein D, et al. Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta, 381: 136–139, 2007 Bussink AP, Speijer D, Aerts JM, et al. Evolution of mammalian chitinase (-like) members of family 18 glycosyl hydrolases. Genetics, 177: 959–970, 2007 Boot RG, Renkema GH, Verhoek M, et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem, 273: 25680–25685, 1998 Boot RG, Verhoek M, de Fost M, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood, 103: 33–39, 2004 Deegan PB, Moran MT, Farlane IM, et al. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis, 35: 259–267, 2005 Boot RG, Verhoek M, Langeveld M, et al. CCL18: a urinary marker of Gaucher cell burden in Gaucher patients. J Inherit Metab Dis, 29: 564–571, 2006 Groener JE, Poorthuis BJ, Kuiper S, et al. Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention. Biochim Biophys, 1781: 72–78, 2008 Cox TM. Gaucher disease. Understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis, 24(Suppl 2): 106–121, 2001 Meikle PJ, Whitfield PD, Rozaklis T, et al. Plasma lipids are altered in Gaucher disease: Biochemical markeres to evaluate therapeutic intervention. Blood Cells Mol Dis, 40: 420–427, 2008 Morgan MA, Hoffbrand AV, Laulicht M, et al. Serum ferritin concentration in Gaucher's disease. Br Med J, 286: 1864, 1983 Cabrera-Salazar MA, O'Rourke E, Henderson N, et al. Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy. Clin Chim Acta, 344: 101–107, 2004 Vellodi A, Foo Y, Cole TJ. Evaluation of three biochemical markers in the monitoring of Gaucher disease. J Inher Metab Dis, 4: 585–592, 2005 Goker-Alpan O, Lopez G, Vithayathil J, et al. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol, 65: 1353–1357, 2008 Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerbrosidase mutations in Parkinson's diseases. New Engl J Med, 361: 1651–1661, 2009 Sorge J, West C, Westwood B, et al. Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA. Proc Natl Acad Sci USA, 82: 7289–7293, 1985 Barneveld RA, Keijzer W, Tegelaers FP, et al. Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet, 64: 227–231, 1983 Horowitz M, Wilder S, Horowitz Z, et al. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics, 4: 87–96, 1989 Hruska KS, LaMarca ME, Scott CR, et al. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat, 29: 567–583, 2008 Latham T, Grabowski GA, Theophilus BD, et al. Complex alleles of the acid beta-glucosidase gene in Gaucher disease. Am J Hum Genet, 47: 79–86, 1990 Zimran A, Sorge J, Gross E, Kubitz M, et al. Glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest, 85: 219–222, 1990 Goker-Alpan O, Hruska KS, Orvisky E, et al. Divergent phenotypes in Gaucher disease implicate the role of modifiers. J Med Genet, 42: e37, 2005 Lachmann RH, Grant IR, Halsall D, et al. Twin pairs showing discordance of phenotype in adult Gaucher's disease. Quart J Med, 97: 199–204, 2004