Newborn screening and diagnosis of mucopolysaccharidoses

Mucopolysaccharidoses (MPS) are caused by deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), kerat...

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Detalhes bibliográficos
Main Authors: Tomatsu, Shunji, Fujii, Tadashi, Fukushi, Masaru, Oguma, Toshihiro, Shimada, Tsutomu, Maeda, Miho, Kida, Kazuhiro, Shibata, Yuniko, Futatsumori, Hideyuki, Montaño, Adriana M., Mason, Robert W., Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Tadao
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4047214/
https://ncbi.nlm.nih.gov/pubmed/23860310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.06.007
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