Associated Papers
Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry.
Vechkasova AO et al.
World Journal of Clinical Pediatrics, 2025
Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.
Voskoboeva E et al.
Frontiers in Molecular Biosciences, 2021
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
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
Jurecka A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.
Zanetti A et al.
Jimd Reports, 2014
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
Jurecka A et al.
American Journal of Medical Genetics. Part A, 2013
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
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
Litjens T et al.
Human Mutation, 2001
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
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