Associated Papers
Histopathological and Clinical-Genetic Analysis of Corneal Specimens in Maroteaux-Lamy Syndrome.
Pereira AF et al.
Cornea, 2026
Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.
Villacis RAR et al.
International Journal of Molecular Sciences, 2024
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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.
Andrade I et al.
Journal of Medical Case Reports, 2022
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Honjo RS et al.
Bmc Medical Genetics, 2020
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 2019
Fundoscopic Changes in Maroteaux-Lamy Syndrome.
Magalhães A et al.
Case Reports in Ophthalmological Medicine, 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
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
Mutations in ARSB in MPS VI patients in India.
Mathew J et al.
Molecular Genetics and Metabolism Reports, 2015
Diagnostic and treatment strategies in mucopolysaccharidosis VI.
Vairo F et al.
The Application of Clinical Genetics, 2015
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
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
Al-Jasmi FA et al.
Jimd Reports, 2013
Expert recommendations for the laboratory diagnosis of MPS VI.
Wood T et al.
Molecular Genetics and Metabolism, 2012
Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.
Viana GM et al.
Genetics and Molecular Biology, 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
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
Zanetti A et al.
European Journal of Human Genetics : Ejhg, 2009
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Lin WD et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.
Garrido E et al.
Molecular Genetics and Metabolism, 2008
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.
Di Natale P et al.
Biotechnology and Applied Biochemistry, 2008
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
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
Petry MF et al.
Journal of Inherited Metabolic Disease, 2005
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
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
Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral Deposits.
Magalhães A et al.
Case Reports in Ophthalmology, 0