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
Molecular analysis of mucopolysaccharidosis type VI in Iranian patients; the influence of founder effect and consanguinity.
Askarizadeh A et al.
Molecular Biology Reports, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F et al.
International Journal of Molecular Sciences, 2023
Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.
Różdżyńska-Świątkowska A et al.
Orphanet Journal of Rare Diseases, 2022
Misdiagnosis in mucopolysaccharidoses.
Wiśniewska K et al.
Journal of Applied Genetics, 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
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).
Nadyrshina D et al.
Genes, 2022
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
D'Avanzo F et al.
International Journal of Molecular Sciences, 2021
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 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 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 case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis.
Zapała B et al.
Molecular Genetics and Metabolism Reports, 2020
Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus.
Karolak JA et al.
Peerj, 2020
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
Aminzadeh M et al.
Gene, 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
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Al-Sannaa NA et al.
Journal of Community Genetics, 2018
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 2017
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
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Choy YS et al.
Molecular Genetics and Metabolism, 2015
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
Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.
Jakóbkiewicz-Banecka J et al.
Metabolic Brain Disease, 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
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Brands MM et al.
Orphanet Journal of Rare Diseases, 2013
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
Thümler A et al.
Journal of Inherited Metabolic Disease, 2012
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.
Jurecka A et al.
Molecular Genetics and Metabolism, 2012
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype.
Jurecka A 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
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
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
Litjens T et al.
Human Mutation, 2001
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients].
Voskoboeva EIu et al.
Genetika, 2000
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