A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

Background: Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the GALNS gene. This disorder results in marked abnormalities in bones and connective tiss...

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Detalles Bibliográficos
Autores principales: Nakamura-Utsunomiya, Akari, Nakamae, Toshio, Kagawa, Reiko, Karakawa, Shuhei, Sakata, Sonoko, Sakura, Fumiaki, Tani, Chihiro, Matsubara, Yoshiko, Ishino, Takashi, Tajima, Go, Okada, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7037301/
https://www.ncbi.nlm.nih.gov/pubmed/32024277
http://dx.doi.org/10.3390/ijms21030989

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7037301/
https://www.ncbi.nlm.nih.gov/pubmed/32024277
http://dx.doi.org/10.3390/ijms21030989

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