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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...
Autores principales: | Sawamoto, Kazuki, Álvarez González, José Víctor, Piechnik, Matthew, Otero, Francisco J., Couce, Maria L., Suzuki, Yasuyuki, Tomatsu, Shunji |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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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 |
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