Results 31 to 40 of about 9,431 (199)

A Rare Case of Mucopolysaccharidosis: Hunter Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2015
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs).
Jayaprasad Anekar, Deepa Narayanan C., Raj A.C., Sandeepa N.C., Deepika Nappalli   +4 more
doaj   +1 more source

The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II. [PDF]

PLoS ONE, 2014
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase.
Zbigniew Żuber, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Anna Tylki-Szymańska   +3 more
doaj   +1 more source

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018

International Journal of Neonatal Screening, 2023
The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS).
Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam, Scott D. Grosse   +4 more
doaj   +1 more source

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics, 2020
RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes, Maryana Mara Marins, Fabiana Louise Motta, Sandra Obikawa Kyosen, Marco Antonio Curiati, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +7 more
doaj   +1 more source

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Frontiers in Genetics, 2023
Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen   +11 more
doaj   +1 more source

Manifestaciones bucales de pacientes con mucopolisacaridosis// Oral manifestations in patients with mucopolysaccharidosis

Revista de la Asociación Odontológica Argentina, 2021
Resumen Objetivo: Describir las características bucales prevalentes de pacientes argentinos con mucopolisacaridosis (MPS) atendidos en el Servicio de Odontología del Hospital Nacional “Prof. Alejandro Posadas”.
Andrea Veronica Rios
doaj   +1 more source

Addition of MPS-II to the Recommended Uniform Screening Panel in the United States

International Journal of Neonatal Screening, 2022
It has recently been announced that the Secretary of the U.S. Department of Health and Human Services has approved the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to add mucopolysaccharidosis type II (
David S. Millington, Can Ficicioglu
doaj   +1 more source

Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study [PDF]

, 2023
Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized ...
Jones, Simon A., Wu, Yuna, Ruiz-Garcia, Matilde, Whiteman, David A.H., Yee, Karen S., Inbar-Feigenberg, Michal, Gutiérrez-Solana, Luis González, Guffon, Nathalie, Hale, Michael, Alexanderian, David, Harmatz, Paul, Bratkovic, Drago, Burton, Barbara K., HGT-HIT-094 Study Group, Muenzer, Joseph   +14 more
core   +2 more sources

Botulinum Toxin Type A for the Treatment of Equinus Deformity in to Patients With Mucopolysaccharidosis Type II [PDF]

, 2012
Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature ...
Nava, Esmeralda, Weber, Peter, Nuoffer, Jean-Marc, Grunt, Sebastian, Gautschi, Matthias   +4 more
core   +1 more source

Comparison of studies addressing effect of ERT on growth in patients with mucopolysaccharidosis type II. [PDF]

, 2014
Comparison of studies addressing effect of ERT on growth in patients with mucopolysaccharidosis type II.
Anna Tylki-Szymańska (508670), Agnieszka Różdżyńska-Świątkowska (508668), Agnieszka Jurecka (508669), Zbigniew Żuber (508667)   +3 more
core   +1 more source