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Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management

Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chond...

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Detalles Bibliográficos
Autores principales: Sawamoto, Kazuki, Álvarez González, José Víctor, Piechnik, Matthew, Otero, Francisco J., Couce, Maria L., Suzuki, Yasuyuki, Tomatsu, Shunji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073202/
https://www.ncbi.nlm.nih.gov/pubmed/32102177
http://dx.doi.org/10.3390/ijms21041517