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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Publicado en:J Inherit Metab Dis
Autores principales: 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
Lenguaje:Inglês
Publicado: 2016
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Article
Acceso en línea: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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