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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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha: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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