Associated Papers
Mucopolysaccharidosis VI: Therapeutic strategies and perspectives.
Leal AF et al.
Molecular Genetics and Metabolism, 2025
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
D'Avanzo F et al.
International Journal of Molecular Sciences, 2021
A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.
Wu X et al.
Bmc Medical Genetics, 2019
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
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls.
Pinto E Vairo F et al.
Pediatrics, 2018
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.
Gómez-Grau M et al.
Plos One, 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
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
Thümler A et al.
Journal of Inherited Metabolic Disease, 2012
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Karageorgos L et al.
Human Mutation, 2007
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
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.
Brooks DA et al.
American Journal of Human Genetics, 1991
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