Orphanet Journal of Rare Diseases

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Clinical characteristics and risk factors of intestinal involvement in Behçet’s syndrome patients: a cross-sectional study from a single center
Orphanet Journal of Rare Diseases - Tập 16 - Trang 1-10 - 2021
Cheng-cheng Hou, Jing-fen Ye, Hai-fen Ma, Jian-long Guan
Intestinal Behçet’s syndrome (BS) has high morbidity and mortality rates with serious complications. The purpose of this study was to investigate the clinical characteristics and laboratory parameters of intestinal and mucocutaneous BS patients and analyze the risk factors of intestinal involvement in BS patients. A retrospective analysis was used to collect the demographic data and laboratory par...... hiện toàn bộ
Safety and tolerability of agalsidase beta infusions shorter than 90 min in patients with Fabry disease: post-hoc analysis of a Japanese post-marketing study
Orphanet Journal of Rare Diseases - Tập 18 - Trang 1-9 - 2023
Chae Sung Lee, Mina Tsurumi, Yoshikatsu Eto
Agalsidase beta, an enzyme replacement therapy for Fabry disease, is dosed biweekly at 1 mg/kg body weight, with increasing infusion rates based on tolerability. The US label specifies ≥ 90-min infusions for all patients; the US and EU labels require ≤ 15 mg/hr infusions in patients < 30 kg. The Japanese label allows infusions up to 30 mg/hr, allowing < 90-min dosing for some patients weighing < 4...... hiện toàn bộ
The genetic basis of classical galactosaemia in Polish patients
Orphanet Journal of Rare Diseases - - 2021
Aleksandra Jezela‐Stanek, Anna Bauer, Katarzyna Wertheim–Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut–Cegielska
AbstractClassic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established by detecting elevated erythrocyte galactose-1-phosphate concentration, reduce...... hiện toàn bộ
Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Orphanet Journal of Rare Diseases - Tập 16 - Trang 1-1 - 2021
Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen, Saskia B. Wortmann
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review
Orphanet Journal of Rare Diseases - Tập 13 - Trang 1-7 - 2018
James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake, Melita D. Irving
Hajdu-Cheney syndrome (HCS) (#OMIM 102500) is a rare, autosomal dominant condition that presents in early childhood. It is caused by mutations in the terminal exon of NOTCH2, which encodes the transmembrane NOTCH2 receptor. This pathway is involved in the coupled processes of bone formation and resorption. The skeletal features of HCS include acro-osteolysis of the digits and osteoporosis commonly...... hiện toàn bộ
Treatment of Satoyoshi syndrome: a systematic review
Orphanet Journal of Rare Diseases - Tập 14 - Trang 1-13 - 2019
Julián Solís-García del Pozo, Carlos de Cabo, Javier Solera
Satoyoshi syndrome is a multisystemic rare disease of unknown etiology, although an autoimmune basis is presumed. Its main symptoms are: painful muscle spasms, diarrhea, alopecia and skeletal abnormalities. Clinical course without treatment may result in serious disability or death. A review of treatment and its response is still pending. Sixty-four cases of Satoyoshi syndrome were published betwe...... hiện toàn bộ
Microscopic versus endoscopic transsphenoidal surgery in the Leiden cohort treated for Cushing’s disease: surgical outcome, mortality, and complications
Orphanet Journal of Rare Diseases - Tập 14 - Trang 1-15 - 2019
Leonie H. A. Broersen, Femke M. van Haalen, Nienke R. Biermasz, Daniel J. Lobatto, Marco J. T. Verstegen, Wouter R. van Furth, Olaf M. Dekkers, Alberto M. Pereira
First-choice treatment for Cushing’s disease is transsphenoidal adenomectomy. Since its introduction in the 1970s, many centers have now switched from microscopic to endoscopic surgery. We compared both techniques for the treatment of Cushing’s disease at the Leiden University Medical Center, a European reference center for pituitary diseases. Cohort study with inclusion and follow-up of consecuti...... hiện toàn bộ
Global epidemiology of amyloid light-chain amyloidosis
Orphanet Journal of Rare Diseases - Tập 17 - Trang 1-10 - 2022
Nishant Kumar, Nicole J. Zhang, Dasha Cherepanov, Dorothy Romanus, Michael Hughes, Douglas V. Faller
Amyloid light-chain (AL) amyloidosis is an ultra-rare disease associated with significant morbidity and mortality. Few studies have examined the global epidemiology of this condition. This study estimated the diagnosed incidence and 1-year, 5-year, 10-year, and 20-year period prevalence of AL amyloidosis in 2018 for countries in and near Europe, and in the United States (US), Canada, Brazil, Japan...... hiện toàn bộ
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
Orphanet Journal of Rare Diseases - - 2011
Marlies J. Valstar, Jan Pieter Marchal, Martha A. Grootenhuis, Vivian T. Colland, Frits A. Wijburg
Abstract Background Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate. MPS III is characterized by progressive mental deterioration ...... hiện toàn bộ
Psychopathological dimensions in familial amyloid polyneuropathy patients
Orphanet Journal of Rare Diseases - Tập 10 - Trang 1-2 - 2015
Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Paula Freitas, Teresa Coelho
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