Results 111 to 120 of about 9,431 (199)

Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II. [PDF]

Orphanet J Rare Dis, 2021
Lin HY, Chen MR, Lee CL, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP.   +8 more
europepmc   +1 more source

Mucopolysaccharidosis Type Ii (Hunter's Syndrome) in Taiwan [PDF]

, 2008
The mucopolysaccharidoses are a group of inherited disorders of lysosomal storage of glycosaminoglycans. Among them, mucopolysaccharidosis (MPS) type II (Hunter's syndrome), caused by a deficiency in iduronate sulfatase , is the only one inherited in an ...
HWU, WUH-LIANG, 胡務亮
core  

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS). [PDF]

Orphanet J Rare Dis, 2021
Muenzer J, Botha J, Harmatz P, Giugliani R, Kampmann C, Burton BK.   +5 more
europepmc   +1 more source

P012: Measuring non-reducing terminal glycosaminoglycan fragments increases specificity and differentiates mucopolysaccharidosis type I (MPS I) from mucopolysaccharidosis type II (MPS II)

Genetics in Medicine Open, 2023
Taraka Donti, Sara Smith, Sasha Chernenkoff, Madeline Ellgass, Madhuri Hegde   +4 more
doaj   +1 more source

An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II. [PDF]

BMC Health Serv Res
Stepien KM, Ayodele O, Muenzer J, Giugliani R, Jackson C, Meade L, Scarpa M, Lampe C, Audi J, Jain S, Toro MD.   +10 more
europepmc   +1 more source

Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review. [PDF]

BMC Pediatr
Liu RY, Dai YL, Zou CC.
europepmc   +1 more source

遺伝性ムコ多糖代謝異常症II型 (Hunter病) の分子生物学的研究 I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^<1327> to T substitution in the iduronate sulfatase gene. II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. [PDF]

博士論文 (Doctoral dissertation)I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^ to T substitution in the iduronate sulfatase gene.II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight ...
祐川, 和子
core  

Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension. [PDF]

JIMD Rep
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D.   +14 more
europepmc   +1 more source

High-Throughput Liquid Chromatography-Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II. [PDF]

Int J Mol Sci, 2020
Wang J, Bhalla A, Ullman JC, Fang M, Ravi R, Arguello A, Thomsen E, Tsogtbaatar B, Guo JL, Skuja LL, Dugas JC, Davis SS, Poda SB, Gunasekaran K, Costanzo S, Sweeney ZK, Henry AG, Harris JM, Henne KR, Astarita G.   +19 more
europepmc   +1 more source

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy. [PDF]

Cureus
Quaicoe ASP, Cornish EE, Chong R.
europepmc   +1 more source