Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective

Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective

Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the <i>ABCD1</i> gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA). ALD manifests in both sexes with a spectrum...

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Bibliographic Details
Main Authors: Julia Prinzi, Marzia Pasquali, Judith A. Hobert, Rachel Palmquist, Kristen N. Wong, Stephanie Francis, Irene De Biase
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:International Journal of Neonatal Screening
Subjects:
adrenoleukodystrophy
very long-chain fatty acids
newborn screening
Zellweger spectrum disorders
pre-symptomatic disease detection
Online Access:https://www.mdpi.com/2409-515X/9/4/64

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https://www.mdpi.com/2409-515X/9/4/64

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