Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report

RATIONALE: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is produced by the deficiency of the enzyme arylsulfatase B, responsible for the hydrolysis of N-acetyl-D-galactosamine, chondroitin sulfate, and dermatan sulfate. PATIENT CONCERNS: A 3-year-old male with Moroccan origins i...

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Detalles Bibliográficos
Autores principales: Ley-Martos, Myriam, Guerrero, Juan M., Lucas-Javato, Marta, Remón-García, Cristina, García-Lozano, J. Raúl, Colón, Cristóbal, Crujeiras, Pablo, Rodrigues, Daniel, Paúl-Sánchez, Pedro, Macher, Hada C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211882/
https://www.ncbi.nlm.nih.gov/pubmed/30335002
http://dx.doi.org/10.1097/MD.0000000000012872

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211882/
https://www.ncbi.nlm.nih.gov/pubmed/30335002
http://dx.doi.org/10.1097/MD.0000000000012872

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