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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Detalles Bibliográficos
Publicado en: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.
Formato: Artigo
Idioma:Inglês
Publicado: American Medical Association 2020
Assuntos:
Original Investigation
Acceso en liña: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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