लोड हो रहा है...
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...
में बचाया:
| मुख्य लेखकों: | , , , , |
|---|---|
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BMJ Group
2001
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| 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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