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

• Váldodahkkit: Julia Prinzi (Dahkki), Marzia Pasquali (Dahkki), Judith A. Hobert (Dahkki), Rachel Palmquist (Dahkki), Kristen N. Wong (Dahkki), Stephanie Francis (Dahkki), Irene De Biase (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: MDPI AG, 2023-11-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

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...