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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Dettagli Bibliografici
Pubblicato in:JAMA Netw Open
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Medical Association 2020
Soggetti:
Original Investigation
Accesso online: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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