Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya [PDF]
Orphanet Journal of Rare DiseasesBackground Limited or absent genetic counseling and testing resources in low- and medium-income countries lead to missed or late diagnoses for treatable metabolic conditions with irreversible complications. In some communities, misunderstanding about the
Lucy N. Wainaina Mungai +8 more
doaj +2 more sources
The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II. [PDF]
PLoS ONE, 2014 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase.
Zbigniew Żuber +3 more
doaj +2 more sources
Вопросы современной педиатрии, 2021 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys.
Nato D. Vashakmadze +6 more
doaj +1 more source
Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing [PDF]
, 2011 BACKGROUND: Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a rare disease inherited in an X-linked autosomal recessive pattern. It is the prevailing form of the mucopolysaccharidoses in China.
A Kloska +45 more
core +17 more sources
Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration. [PDF]
PLoS ONE, 2016 Enzyme replacement therapy with intravenous idursulfase (recombinant iduronate-2-sulfatase) is approved for the treatment of Hunter syndrome. Intravenous administration does not, however, treat the neurological manifestations, due to its low central ...
Jou-Ku Chung +4 more
doaj +1 more source
Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration. [PDF]
PLoS ONE, 2015 Intravenous enzyme replacement therapy with iduronate-2-sulfatase is an approved treatment for Hunter syndrome, however, conventional intravenous delivery cannot treat the neurologic manifestations of the disease due to its limited central nervous system
Hongsheng Xie +3 more
doaj +1 more source
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey. [PDF]
JIMD RepABSTRACT Mucopolysaccharidosis II is a rare, X‐linked disease, with very few reports of affected female patients. Natural history data describe a predominantly male population, and appropriate disease characterization in female patients is lacking. This analysis explores the somatic disease burden and clinical progression of female patients with MPS II
Burton BK +10 more
europepmc +2 more sources
Fusion of RVG or gh625 to Iduronate-2-Sulfatase for the Treatment of Mucopolysaccharidosis Type II [PDF]
, 2023 Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disease caused by a mutation in the IDS gene, resulting in deficiency of the enzyme iduronate-2-sulfatase (IDS) causing heparan sulfate (HS) and dermatan sulfate (DS) accumulation in all cells.
Bigger, Brian +12 more
core +4 more sources
Molecular Therapy: Methods & Clinical Development, 2023 Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by deficient activity of iduronate-2-sulfatase (I2S), leading to pathological accumulation of glycosaminoglycans (GAGs) in tissues. We used iduronate-2-sulfatase knockout
Nancy Chen +18 more
doaj +1 more source
Hunter Syndrome: Clinical Case of Early Diagnostics
Педиатрическая фармакология, 2020 Background. This clinical case of orphan disease can be interesting for its early diagnostics which is essential for timely specific therapy and sufficient dynamic observation. Clinical case description.
Natalya N. Martynovich +4 more
doaj +1 more source