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
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.
Urizar E et al.
Genes, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
D'Avanzo F et al.
International Journal of Molecular Sciences, 2021
The natural history of neurocognition in MPS disorders: A review.
Shapiro EG et al.
Molecular Genetics and Metabolism, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.
Voskoboeva E et al.
Frontiers in Molecular Biosciences, 2021
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
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients.
Hançer VS et al.
Molecular Syndromology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos 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
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P et al.
Frontiers in Bioscience (landmark Edition), 2017
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
Diagnostic and treatment strategies in mucopolysaccharidosis VI.
Vairo F et al.
The Application of Clinical Genetics, 2015
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
Chistiakov DA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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
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
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
Lachman RS et al.
Skeletal Radiology, 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
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Brands MM et al.
Orphanet Journal of Rare Diseases, 2013
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
Pollard LM et al.
Journal of Inherited Metabolic Disease, 2013
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Mendelsohn NJ et al.
Jimd Reports, 2013
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
Thümler A et al.
Journal of Inherited Metabolic Disease, 2012
Expert recommendations for the laboratory diagnosis of MPS VI.
Wood T et al.
Molecular Genetics and Metabolism, 2012
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.
Jurecka A et al.
Molecular Genetics and Metabolism, 2012
Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene.
Gottwald I et al.
Molecular Genetics and Metabolism, 2011
Mucopolysaccharidosis VI.
Valayannopoulos V et al.
Orphanet Journal of Rare Diseases, 2010
Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series.
Scarpa M et al.
Journal of Pediatric Rehabilitation Medicine, 2010
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
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
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.
Azevedo AC et al.
Clinical Genetics, 2004
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Karageorgos L et al.
Human Mutation, 2004
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