Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …

X-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most
frequent peroxisomal disorder, with an estimated incidence of 1: 17,000. This complex …

Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive
metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive …

The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused
by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding …

Growing interest in therapeutic development for rare diseases necessitate a systematic
approach to the collection and curation of natural history data that can be applied …

Background X-linked adrenoleukodystrophy (X-ALD) is highly variable, ranging from slowly
progressive adrenomyeloneuropathy to severe brain demyelination and inflammation …

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform
Screening Panel, prompting many states to begin screening newborns for the disorder. We …

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

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results
from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty …

Inborn errors of metabolism (IEM) are a group of disorders due to functional defects in one or
more metabolic pathways that can cause considerable morbidity and death if not diagnosed …