An update on the diagnosis and treatment of adrenoleukodystr... : Current Opinion in
Endocrinology, Diabetes and Obesity An update on the diagnosis and treatment of …

Males with X‐linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal
insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic …

Introduction X-linked adrenoleukodystrophy (X-ALD) is the most common inherited
peroxisomal disorder caused by variants in the ABCD1 gene. The main phenotypes …

Problem Adrenoleukodystrophy (ALD) is an x-linked genetic condition with a high risk of
adrenal dysfunction recommended for newborn screening. This review aims to critically …

The advancements in population screening, including newborn screening, enables the
identification of disease-causing variants and timely initiation of treatment. However …

Abstract and keywords The gold-standard diagnostic test for peroxisomal disorders (PDs) is
plasma concentration analysis of very long-chain fatty acids (VLCFA). However, this …

Background X-linked adrenoleukodystrophy (X-ALD) is a rare X-linked disease caused by
mutations of the ABCD1 gene. C26: 0-lysophosphatidylcholine (C26: 0-LPC) has been …

Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene,
encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β …

X-linked adrenoleukodystrophy (X-ALD) is a rare inborn error of the peroxisomal metabolism
caused by pathologic variants in the ATP-binding cassette transporter type D, member 1 …

Background Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by
variants in the ABCD1 gene and can lead to Addison disease, childhood cerebral ALD, or …