Results 121 to 130 of about 12,717 (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

Mucopolysaccharidosis type II with inguinal hernia.

Journal of Nepal Health Research Council, 2015
Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death.
A, Rayamajhi, P J, Pokharel, R, Chapagain, A K, Rayamajhi   +3 more
openaire   +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

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

Genet Med [PDF]

The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the

core  

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

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

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

A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II. [PDF]

Int J Neonatal Screen
Ayodele O, Fertek D, Evuarherhe O, Siffel C, Audi J, Yee KS, Burton BK.   +6 more
europepmc   +1 more source

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy. [PDF]

J Inherit Metab Dis
Kampmann C, Lampe C, Wiethoff CM, Arash-Kaps L, Mengel E, Reinke J, Beck M, Hennermann JB, Abu-Tair T.   +8 more
europepmc   +1 more source