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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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 |
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