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Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

OBJECTIVE—To evaluate newborn screening by tandem mass spectrometry for detection of medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder with significant mortality in undiagnosed patients.
DESIGN—The following were studied: (a) 13 clinically detected MCAD deficient...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Carpenter, K, Wiley, V, Sim, K, Heath, D, Wilcken, B
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BMJ Group 2001
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC1721303/
https://ncbi.nlm.nih.gov/pubmed/11517203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/fn.85.2.F105
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