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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Dades bibliogràfiques
Publicat a:JAMA Netw Open
Autors principals: 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
Idioma:Inglês
Publicat: American Medical Association 2020
Matèries:
Original Investigation
Accés en línia: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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