Associated Papers
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chuang CK et al.
International Journal of Molecular Sciences, 2022
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.
Chuang CK et al.
Diagnostics (basel, Switzerland), 2021
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
33673364 (PubMed )
Supplement: diagnostics-11-00294-s001.xlsx › TableS1
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
Jafaryazdi R et al.
Molecular Biology Reports, 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
30118150 (PubMed )
Supplement: HUMU-39-1788-s003.xlsx › gnomad_ENSG00000113273_2017_11_
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
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
Costa-Motta FM et al.
Molecular Genetics and Metabolism, 2011
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
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
Brooks DA et al.
Molecular Genetics and Metabolism, 2005
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