Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases
Author:
Funder
Japan Society for the Promotion of Science
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference25 articles.
1. The Metabolic and Molecular Basis of Inherited Disease;EF Neufeld,2001
2. Effects of idursulfase enzyme replacement therapy for mucopolysaccharidosis type II when started in early infancy: comparison in two siblings;G Tajima;Mol Genet Metab,2013
3. Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome;YB Sohn;Mol Genet Metab,2015
4. Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study;N Guffon;Orphanet J Rare Dis,2015
5. Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients;R Parini;Mol Genet Metab Rep,2015
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1. Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II;International Journal of Molecular Sciences;2021-11-12
2. Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II);BMC Medical Genomics;2021-03-06
3. Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2020-11
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5. Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses;Expert Review of Molecular Diagnostics;2018-09-26
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