A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis

BACKGROUND AND OBJECTIVES: Mucopolysaccharidosis type VI (MPS VI) is a rare, autosomal recessive lysosomal storage disorder caused by deficient enzymatic activity of N-acetyl galactosamine-4-sulphatase, which is caused by mutations in the arylsulphatase B (ARSB) gene. To date, 163 different types of...

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Detalles Bibliográficos
Autores principales: Zapała, Barbara, Chmura, Olaf, Ciałowicz, Urszula, Solnica, Bogdan, Krajewska-Włodarczyk, Magdalena, Żuber, Zbigniew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600365/
https://www.ncbi.nlm.nih.gov/pubmed/33163362
http://dx.doi.org/10.1016/j.ymgmr.2020.100658

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