Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

IMPORTANCE: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory demyelination in the central nervous system and to adrenal cortex atrophy. In 2016, X-ALD was added to the US Recommended Uniform Screenin...

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Bibliografiske detaljer
Udgivet i:JAMA Netw Open
Main Authors: Lee, Stacey, Clinard, Kristin, Young, Sarah P., Rehder, Catherine W., Fan, Zheng, Calikoglu, Ali S., Bali, Deeksha S., Bailey, Donald B., Gehtland, Lisa M., Millington, David S., Patel, Hari S., Beckloff, Sara E., Zimmerman, Scott J., Powell, Cynthia M., Taylor, Jennifer L.
Format: Artigo
Sprog:Inglês
Udgivet: American Medical Association 2020
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Original Investigation
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7042889/
https://ncbi.nlm.nih.gov/pubmed/32003821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamanetworkopen.2019.20356
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