Associated Papers
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Tomanin R et al.
Human Mutation, 2018
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
Uttarilli A et al.
Gene, 2017
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P et al.
Frontiers in Bioscience (landmark Edition), 2017
Diagnostic and treatment strategies in mucopolysaccharidosis VI.
Vairo F et al.
The Application of Clinical Genetics, 2015
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Jurecka A et al.
Clinical Rheumatology, 2014
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study.
McGill JJ et al.
Clinical Genetics, 2010
Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.
Saito S et al.
Molecular Genetics and Metabolism, 2008
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Karageorgos L et al.
Human Mutation, 2007
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
Karageorgos L et al.
Molecular Genetics and Metabolism, 2007
Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots.
Hein LK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.
Bradford TM et al.
Biochemistry, 2002
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
Litjens T et al.
Human Mutation, 2001
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
Villani GR et al.
Biochimica Et Biophysica Acta, 1999
Structure of a human lysosomal sulfatase.
Bond CS et al.
Structure (london, England : 1993), 1997
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.
Litjens T et al.
American Journal of Human Genetics, 1996
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.
Brooks DA et al.
American Journal of Human Genetics, 1991
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
Garrido E et al.
Molecular Genetics and Metabolism, 0