The genetic basis of classical galactosaemia in Polish patientsOrphanet 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
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature reviewOrphanet 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 reviewOrphanet 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 complicationsOrphanet 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 amyloidosisOrphanet 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