Associated Papers
A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.
Broeders M et al.
Molecular Therapy. Methods & Clinical Development, 2020
33209960 (PubMed )
Supplement: mmc2.pdf
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.
Ebbink BJ et al.
Journal of Inherited Metabolic Disease, 2016
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.
Ferla R et al.
Human Gene Therapy, 2015
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
Thümler A et al.
Journal of Inherited Metabolic Disease, 2012
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Lin WD et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
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
Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis.
Bertelli M et al.
Panminerva Medica, 2006
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
Bertelli M et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2006
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Karageorgos L et al.
Human Mutation, 2004
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
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