Associated Papers
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).
Cardoso-Dos-Santos AC et al.
Journal of Community Genetics, 2024
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
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P et al.
Frontiers in Bioscience (landmark Edition), 2017
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings.
Franco JF et al.
Genetics and Molecular Research : Gmr, 2016
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
Diagnostic and treatment strategies in mucopolysaccharidosis VI.
Vairo F et al.
The Application of Clinical Genetics, 2015
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings.
Leal GN et al.
Cardiology in the Young, 2014
Skeletal complications in mucopolysaccharidosis VI patients: Case reports.
Garcia P 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
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.
Garrido E et al.
Molecular Genetics and Metabolism, 2008
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
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
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