Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks

Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. GALNS leads to the lysosomal degradation of the glycosaminoglyccreasans keratan sulfate and chondroitin 6-sulfate. Impaired GALNS enzymes result in skele...

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Detalles Bibliográficos
Autores principales: Leal, Andrés Felipe, Alméciga-Díaz, Carlos Javier, Tomatsu, Shunji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671113/
https://www.ncbi.nlm.nih.gov/pubmed/38003337
http://dx.doi.org/10.3390/ijms242216148

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671113/
https://www.ncbi.nlm.nih.gov/pubmed/38003337
http://dx.doi.org/10.3390/ijms242216148

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