Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by pathogenic variants in the ATP-binding cassette subfamily D member 1 gene (<i>ABCD1</i>) that encodes the adrenoleukodystrophy protein (ALDP). Defects in ALDP result in elevated cerotic acid, and lead to C26:0-lysophos...

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Bibliographic Details
Main Authors: Tarek A. Teber, Brian J. Conti, Christopher A. Haynes, Amy Hietala, Mei W. Baker
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:International Journal of Neonatal Screening
Subjects:
dried blood spots
flow injection analysis
C26:0-lysophosphatidylcholine
newborn screening
tandem mass spectrometry
X-linked adrenoleukodystrophy
Online Access:https://www.mdpi.com/2409-515X/8/2/27

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https://www.mdpi.com/2409-515X/8/2/27

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