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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Dades bibliogràfiques
Publicat a:J Inherit Metab Dis
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2016
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Article
Accés en línia: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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