Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy-Reference-Cited by-同舟云学术

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy

Published:2007-02 Issue:2 Volume:90 Page:164-170
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Karageorgos Litsa,Brooks Doug A.,Harmatz Paul,Ketteridge David,Pollard Anthony,Melville Elizabeth L.,Parkinson-Lawrence Emma,Clements Peter R.,Hopwood John J.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. The mucopolysaccharidosis;Neufeld,2001

2. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome);Swiedler;Am. J. Med. Genet. A.,2005

3. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux–Lamy syndrome);Harmatz;J. Pediatr.,2004

4. Direct comparison of measures of endurance, mobility, and joint function during enzyme replacement therapy of mucopolysaccharidosis VI (Maroteaux–Lamy syndrome): Results after 48 weeks in a Phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase (rhASB);Harmatz;Pediatrics,2005

5. MPS VI Phase 3 Study Group. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study;Harmatz;J. Pediatr.,2006

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2. ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs;Animal Genetics;2020-09-28

3. Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity;Diagnostics;2020-01-21

4. 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

5. Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study;European Journal of Pediatrics;2019-02-26