Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by the deficiency of lysosomal enzymes. The enzymes are required to break down glycosaminoglycans (GAGs) that help build bone, cartilage, tendons, corneas, skin and connective tissue. In patients with MPS, a missing enzyme...

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Published in:Nihon Masu Sukuriningu Gakkai Shi
Main Authors: Tomatsu, Shunji, Kubaski, Francyne, Sawamoto, Kazuki, Mason, Robert W., Yasuda, Eriko, Shimada, Tsutomu, Montaño, Adriana M., Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Tadao
Format: Artigo
Language:Inglês
Published: 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4303184/
https://ncbi.nlm.nih.gov/pubmed/25620850
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