Epidemiology of mucopolysaccharidoses
Shaukat Khan,Hira Peracha,Diana Ballhausen,Alfred Wiesbauer,Marianne Rohrbach,Matthias Gautschi,Robert W. Mason,Roberto Giugliani,Yasuyuki Suzuki,Kenji E. Orii,Tadao Orii,Shunji Tomatsu,Shunji Tomatsu,Shunji Tomatsu +13 more
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TLDR
Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of M PS, as seen for other rare genetic diseases.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 2017-07-01 and is currently open access. It has received 996 citations till now. The article focuses on the topics: Population.read more
Citations
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Journal ArticleDOI
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
TL;DR: The findings reinforce previous recommendations for ERT to be initiated early to maximally benefit patients with MPS II, especially those younger than 3 years old.
Journal ArticleDOI
Leukocyte Imbalances in Mucopolysaccharidoses Patients
Nuno Lopes,M. Luz Maia,Catia S. Pereira,Inês Mondragão-Rodrigues,Esmeralda Martins,R. Ribeiro,Ana Maria Minarelli Gaspar,P. Aguiar,Paula Garcia,M. Teresa Cardoso,E. Rodrigues,Elisa Leão-Teles,Roberto Giugliani,Maria Francisca Coutinho,Sandra Alves,M. Fatima Macedo +15 more
TL;DR: In this paper , different leukocyte populations in MPS II and VI disease patients were studied, showing that MPS VI patients have a higher frequency of naïve T cells and a lower memory T cell frequency than control subjects.
Molecular Genetics and Metabolism
TL;DR: LIMP-2 was shown to be implicated in the delivery of beta-glucocerebrosidase (GCase) to the lysosomes, whereas sortilin has been suggested to be a multifunctional receptor capable of binding several different ligands, including neurotensin and receptor- associated protein (RAP).
Molecular Genetics and Metabolism
TL;DR: A major step toward establishing that fructose metabolism in mice mimics that of humans is reported by investigating the consequences of targeting the mouse aldolase-B gene (Aldo2) for deletion in mice (A Aldo2 �/� ).
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Prevalence of lysosomal storage disorders.
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
Joseph Muenzer,James E. Wraith,Michael Beck,Roberto Giugliani,Paul Harmatz,Christine M. Eng,Ashok Vellodi,Rick A. Martin,Uma Ramaswami,Muge Gucsavas-Calikoglu,Suresh Vijayaraghavan,Susanne Wendt,Ana Cristina Puga,Brian Ulbrich,Marwan Shinawi,Maureen Cleary,Diane Piper,Anne Marie Conway,Alan Kimura +18 more