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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Bibliografiska uppgifter
I publikationen:Nihon Masu Sukuriningu Gakkai Shi
Huvudupphovsmän: Tomatsu, Shunji, Kubaski, Francyne, Sawamoto, Kazuki, Mason, Robert W., Yasuda, Eriko, Shimada, Tsutomu, Montaño, Adriana M., Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Tadao
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2014
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4303184/
https://ncbi.nlm.nih.gov/pubmed/25620850
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