Results 51 to 60 of about 2,839 (212)
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline [PDF]
, 2014 Background In developing countries, many cases with rare neurological diseases remain undiagnosed due to limited diagnostic experience. We encountered a case in China where two siblings both began to develop idiopathic progressive cognitive decline ...
Anding Xu +7 more
core +1 more source
A Rare Case of Mucopolysaccharidosis: Hunter Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2015 Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs).
Jayaprasad Anekar +4 more
doaj +1 more source
Journal of Health Economics and Outcomes Research, 2022 **Background:** Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, X-linked, life-limiting lysosomal storage disease characterized by a deficiency in the activity of the enzyme iduronate-2-sulfatase.
Olulade Ayodele +4 more
doaj +2 more sources
Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. [PDF]
, 2017 Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffness,
Dickson, Patricia +6 more
core +3 more sources
A rare case of severe Hunter's Syndrome
CHRISMED Journal of Health and Research, 2018 Hunter's Syndrome or mucopolysaccharidosis Type II is a rare metabolic disorder caused by the deficiency of lysosomal enzyme iduronate-2-sulfatase. It results in progressive accumulation of deramatan and heparan sulfates in tissues leading to a wide ...
Sharon Vincent +3 more
doaj +1 more source
Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report [PDF]
Kragujevac Journal of Science, 2023 Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes.
Tubić-Vukajlović Jovana M. +3 more
doaj
Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II
Journal of Pediatric Emergency and Intensive Care Medicine, 2019 Mucopolysaccharidosis type II (MPS II) is a rare, X-linked recessive disease characterized by deficiency of lysosomal iduronate-2-sulfatase. Progressive upper airway obstruction is common in patients with MPS II.
Damla Hanalioğlu +4 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2023 Mucolipidosis type II and III (MLII/III) is caused by defects in the mannose-6-phosphate system, which is essential to target most of the lysosomal hydrolases to the lysosome.
Xinying Hong +4 more
doaj +1 more source
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs [PDF]
, 2017 The transfer of genomic information into the primary RNA sequence can be altered by RNA editing. We have previously shown that genomic variants can be RNA-edited to wild-type. The presence of distinct “edited” iduronate 2-sulfatase (IDS) mRNA transcripts
Amico, Giulia +11 more
core +2 more sources
Stem Cell Research, 2019 Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong +8 more
doaj +1 more source