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 Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
Akalın A et al.
American Journal of Medical Genetics. Part A, 2025
The clinical and genotypic-phenotypic findings of mucopolysaccharidosis VI patients: an Iraqi single-study descriptive study.
Baheer Abdul Wahhab S et al.
Annals of Medicine and Surgery (2012), 2023
Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.
Kilavuz S et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2022
Clinical, Endocrine and Genetic spectrums of Mucopolysaccharidoses type VI in Duhok city, Kurdistan Region, Iraq.
Haleem AA
Cellular and Molecular Biology (noisy-le-grand, France), 2022
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Ghaffari SR et al.
Human Mutation, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
D'Avanzo F et al.
International Journal of Molecular Sciences, 2021
Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.
İnci A et al.
Orphanet Journal of Rare Diseases, 2021
The natural history of neurocognition in MPS disorders: A review.
Shapiro EG et al.
Molecular Genetics and Metabolism, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.
Voskoboeva E et al.
Frontiers in Molecular Biosciences, 2021
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients.
Hançer VS et al.
Molecular Syndromology, 2020
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
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients.
Malekpour N et al.
Iranian Journal of Basic Medical Sciences, 2018
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.
Kılıç M et al.
American Journal of Medical Genetics. Part A, 2017
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P et al.
Frontiers in Bioscience (landmark Edition), 2017
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
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
Cobos PN et al.
Jimd Reports, 2015
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
Chistiakov DA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
Kantaputra PN et al.
American Journal of Medical Genetics. Part A, 2014
[Genetic aspects of mucopolysaccharidoses].
Lacombe D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 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
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Karageorgos L et al.
Human Mutation, 2004
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
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
Simonaro CM et al.
Biochimica Et Biophysica Acta, 1995
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.
Brooks DA et al.
American Journal of Human Genetics, 1991