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Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans

Mucopolysaccharidoses (MPS) and mucolipidosis (ML II/III) are a group of lysosomal storage disorders (LSDs) that occur due to a dysfunction of the lysosomal hydrolases responsible for the catabolism of glycosaminoglycans (GAGs). However, ML is caused by a deficiency of the enzyme uridine-diphosphate...

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Detalles Bibliográficos
Autores principales: Arunkumar, Nivethitha, Vu, Dung Chi, Khan, Shaukat, Kobayashi, Hironori, Ngoc Can, Thi Bich, Oguni, Tsubasa, Watanabe, Jun, Tanaka, Misa, Yamaguchi, Seiji, Taketani, Takeshi, Ago, Yasuhiko, Ohnishi, Hidenori, Saikia, Sampurna, Álvarez, José V., Tomatsu, Shunji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394749/
https://www.ncbi.nlm.nih.gov/pubmed/34441282
http://dx.doi.org/10.3390/diagnostics11081347