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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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2013
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Article
Länkar: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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