Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns

We screened 51,081 newborns for X-linked adrenoleukodystrophy (ALD) using a two-tiered strategy quantifying very long chain lysophosphatadylcholines (LPC). Our testing strategy used flow injection tandem mass spectrometry for the first-tier analysis of LPCs, and second-tier quantification of C26:0 L...

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Detalles Bibliográficos
Autores principales: Hall, Patricia L., Li, Hong, Hagar, Arthur F., Jerris, S. Caleb, Wittenauer, Angela, Wilcox, William
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711439/
https://www.ncbi.nlm.nih.gov/pubmed/33239602
http://dx.doi.org/10.3390/ijns6040081

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711439/
https://www.ncbi.nlm.nih.gov/pubmed/33239602
http://dx.doi.org/10.3390/ijns6040081

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