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

• Autori principali: Patricia L. Hall (Autore), Hong Li (Autore), Arthur F. Hagar (Autore), S. Caleb Jerris (Autore), Angela Wittenauer (Autore), William Wilcox (Autore)
• Natura: Libro
• Pubblicazione: MDPI AG, 2020-10-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...