Results 141 to 150 of about 5,048,722 (239)

A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. [PDF]

Orphanet J Rare Dis, 2023
Yee KS, Chirila C, Davenport E, Mladsi D, Barnett C, Kronenberger WG.   +5 more
europepmc   +1 more source

Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review

International Journal of Molecular Sciences
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase.
Walla Al-Hertani, Ravi R. Pathak, O. Evuarherhe, Gemma Carter, Carolyn R. Schaeffer-Koziol, David A. H. Whiteman, Ekaterina Wright   +6 more
semanticscholar   +1 more source

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

Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]

, 2013
Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
core  

Clinical Characteristics and Healthcare Resource Utilization for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review. [PDF]

J Health Econ Outcomes Res, 2022
Ayodele O, Müller K, Setayeshgar S, Alexanderian D, Yee KS.   +4 more
europepmc   +1 more source

Impact of the Timing of Enzyme Replacement Therapy Initiation and Cognitive Impairment Status on Outcomes for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review. [PDF]

J Health Econ Outcomes Res, 2022
Yee KS, Alexanderian D, Feng Y, Ren X, Schweikert B, Ayodele O.   +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

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

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

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