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

• मुख्य लेखकों: Julia Prinzi (लेखक), Marzia Pasquali (लेखक), Judith A. Hobert (लेखक), Rachel Palmquist (लेखक), Kristen N. Wong (लेखक), Stephanie Francis (लेखक), Irene De Biase (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2023-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...