Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans

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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Bibliographic Details
Main Authors: Nivethitha Arunkumar, Dung Chi Vu, Shaukat Khan, Hironori Kobayashi, Thi Bich Ngoc Can, Tsubasa Oguni, Jun Watanabe, Misa Tanaka, Seiji Yamaguchi, Takeshi Taketani, Yasuhiko Ago, Hidenori Ohnishi, Sampurna Saikia, José V. Álvarez, Shunji Tomatsu
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Diagnostics
Subjects:
mucopolysaccharidoses
mucolipidosis
glycosaminoglycans
enzyme assay
newborn screening
Online Access:https://www.mdpi.com/2075-4418/11/8/1347

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https://www.mdpi.com/2075-4418/11/8/1347

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