Results 91 to 100 of about 6,677,368 (199)

Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry

World Journal of Clinical Pediatrics
BACKGROUND Mucopolysaccharidosis type II (MPS II) is a chronic inherited disease with multiorgan involvement, a progressive course, and restricted life expectancy. AIM To evaluate the predictors of fatal outcomes in MPS II patients.
Buchinskaya, Natalia, Vechkasova, Anastasia, Vashakmadze, Nato, Namazova-Baranova, Leyla, Ivanov, Dmitry, Zakharova, Ekaterina, Kutsev, Sergei, Kostik, Mikhail   +7 more
openaire   +2 more sources

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS).

, 2011
To evaluate the occurrence of infusion-related reactions (IRRs) in patients with mucopolysaccharidosis type II (MPS II) receiving idursulfase enrolled in the observational database HOS - the Hunter Outcome ...
Barbara K. Burton, Whiteman, DAH, David A.H. Whiteman, Burton, BK, FELICIANI, Claudio   +4 more
core   +1 more source

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. [PDF]

Orphanet J Rare Dis, 2023
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA.   +9 more
europepmc   +1 more source

alpha-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I

, 2002
Mucopolysaccharidosis I (McKusick 25280, Hurler syndrome, Scheie syndrome) is caused by a deficiency in the lysosomal hydrolase, α-L-iduronidase (EC 3.2.1.76) and results in a failure to degrade the glycosaminoglycans, dermatan sulfate and heparan ...
Brooks, D.
core   +1 more source

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines. [PDF]

Int J Mol Sci, 2023
Sofronova V, Gurinova E, Petukhova D, Fukamatsu H, Yamamoto T, Aoyama Y, Golikova P, Moskvitin G, Ivanova R, Savvina M, Vasilev F, Moriwaki T, Terawaki S, Sukhomyasova A, Maksimova N, Otomo T.   +15 more
europepmc   +1 more source

Comparison of growth patterns of patients with mucopolysaccharidosis type II who started enzyme replacement therapy before 6 years of age and patients who were naïve to ERT.

, 2014
Comparison of growth patterns of patients with mucopolysaccharidosis type II who started enzyme replacement therapy before 6 years of age and patients who were naïve to ERT.
Anna Tylki-Szymańska (508670), Agnieszka Różdżyńska-Świątkowska (508668), Agnieszka Jurecka (508669), Zbigniew Żuber (508667)   +3 more
core   +1 more source

Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice. [PDF]

Mol Pharm, 2023
Imakiire A, Morimoto H, Suzuki H, Masuda T, Yoden E, Inoue A, Morioka H, Konaka T, Mori A, Shirasaka R, Kato R, Hirato T, Sonoda H, Minami K.   +13 more
europepmc   +1 more source

Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey. [PDF]

Mol Genet Metab Rep, 2023
Lau H, Harmatz P, Botha J, Audi J, Link B.   +4 more
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.

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  

Gene therapy for cross-correction of somatic organs and the CNS in mucopolysaccharidosis II in rodents and non-human primates. [PDF]

Mol Ther Methods Clin Dev, 2023
Chen N, Ehmann DE, Crooker R, Derakhchan K, Fang X, Felice B, Galbreath EJ, Glaus C, Gu H, Huang Y, Li C, Li X, Liu N, Palmieri K, Simic D, Sypek J, Thompson S, Winkelmann CT, Choi VW.   +18 more
europepmc   +1 more source