Newborn screening for mucopolysaccharidoses: A pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

BACKGROUND: Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressive and usually result in irreversible in skeletal, visceral and/or brain damage, highlighting a need for early diagnosis. METHODS: This pilot study analyzed 2,862 dried blood spots (DBS) from newborn...

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Pubblicato in:J Inherit Metab Dis
Autori principali: Kubaski, Francyne, Mason, Robert W., Nakatomi, Akiko, Shintaku, Haruo, Xie, Li, van Vlies, Naomi N., Church, Heather, Giugliani, Roberto, Kobayashi, Hironori, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Tadao, Fukao, Toshiyuki, Montaño, Adriana M., Tomatsu, Shunji
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5203965/
https://ncbi.nlm.nih.gov/pubmed/27718145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9981-6
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