Results 111 to 120 of about 6,677,368 (199)

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

Isokinetic strength differences in patients with mucopolysaccharidosis I, II, and VI

, 2013
University of Miinesota M.S. thesis. May 2013. Major: Kinesiology. Advisor: Donald R. Dengel, Ph.D. 1 computer file (PDF); v, 42 pages, appendix p.
Taylor, Natalie Ebsch
core  

Mucopolysaccharidosis in children as seen through the eyes of an ophthalmologist

Mucopolysaccharidosis is a rare, genetically determined metabolic disease. It arises from abnormalities related to the absence or deficiency of lysosomal enzymes needed to break down glycosaminoglycans.
Katarzyna Piasecka, Anna Niwald, Mirosława Grałek   +2 more
core   +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

Sustained clinical benefit of idursulfase beta in mucopolysaccharidosis II: two-year experience from a phase 3 extension study including patients switched from idursulfase. [PDF]

Orphanet J Rare Dis
Im M, Song A, Park H, Kim J, Kim C, Noh ES, Bae GY, Sung J, Hwang J, Ahn YJ, Kim H, Oh Y, Kim B, Cho SY.   +13 more
europepmc   +1 more source

A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options. [PDF]

Genet Med
Kucera KS, Clinard K, Blake SL, Copeland VR, Migliore B, Torrice L, Carter JK, Apoian JN, Tober KA, Thorp E, Gehtland LM, Shone SM, Jalazo ER, Bali D, Young SP, Rehder CW, Raspa M, Muenzer J.   +17 more
europepmc   +1 more source

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