Newborn Screening for X-linked Adrenoleukodystrophy: Further evidence high throughput screening is feasible

X-linked adrenoleukodystrophy (ALD) is characterized by adrenal insufficiency and neurologic involvement with onset at variable ages. Plasma very long chain fatty acids are elevated in ALD; even in asymptomatic patients. We demonstrated previously that liquid chromatography tandem mass spectrometry...

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Hlavní autoři: Theda, Christiane, Gibbons, Katy, DeFor, Todd E., Donohue, Pamela K., Golden, W. Christopher, Kline, Antonie D., Gulamali-Majid, Fizza, Panny, Susan R., Hubbard, Walter C., Jones, Richard O., Liu, Anita K., Moser, Ann B., Raymond, Gerald V.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3935823/
https://ncbi.nlm.nih.gov/pubmed/24268529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.10.019
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