Results 111 to 120 of about 5,715,301 (195)

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

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

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

α-L-iduronidase therapy for mucopolysaccharidosis type I

, 2008
Jakub Tolar, Paul J OrchardDivision of Hematology, Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USAAbstract: More than 500 patients with mucopolysaccharidosis type IH (MPS IH; Hurler ...
Jakub Tolar, Paul J Orchard
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Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey. [PDF]

Orphanet J Rare Dis
Muenzer J, Amartino H, Giugliani R, Harmatz P, Lin SP, Link B, Molter D, Ramaswami U, Scarpa M, Botha J, Audi J, Burton BK.   +11 more
europepmc   +1 more source

A new route for the preparation of iduronate-2-sulfate glycosides: A new substrate for iduronate-2-sulfatase for screening and diagnosis of Mucopolysaccharidosis-II. [PDF]

Carbohydr Res
Singh G, Lim S, Wakpal J, Khaledi H, Gelb MH.   +4 more
europepmc   +1 more source

Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase. [PDF]

Mol Genet Metab Rep, 2020
Hogan MJ, Stephens K, Smith E, Jalazo ER, Hendriksz CJ, Edwards LJ, Bjoraker KJ.   +6 more
europepmc   +1 more source

Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome)

, 2008
We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) ( Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus.
CHEN, CHIH-PING;LIN, SHUAN-PEI;TZEN, CHIN-YUAN;HWU, WUH-LIANG;CHERN, SCHU-RERN;WANG, WAY-SEEN, 陳持平;林炫沛;曾岐元;胡務亮;陳樹人;王偉信   +1 more
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