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

• Glavni autori: Julia Prinzi (Autor), Marzia Pasquali (Autor), Judith A. Hobert (Autor), Rachel Palmquist (Autor), Kristen N. Wong (Autor), Stephanie Francis (Autor), Irene De Biase (Autor)
• Format: Knjiga
• Izdano: MDPI AG, 2023-11-01T00:00:00Z.
• Teme: article
• Online pristup: 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...