Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference23 articles.
1. Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase
2. Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B
3. Review: The immunochemical analysis of enzyme from mucopolysaccharidoses patients
4. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI.
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1. Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI;Cochrane Database of Systematic Reviews;2021-09-17
2. Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI;Gene;2019-07
3. Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI;Molecular Biology Reports;2019-04-13
4. A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients;Molecular Syndromology;2019
5. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in theARSBgene;Human Mutation;2018-09-17
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