t/gene-abcd1

ABCD1 gene

Discuss publications and research concerning the ABCD1 gene.

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Related literature

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy.
ABCD1
Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.
ABCD1
X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.
ABCD1
The pivotal role of etiology in managing Non-CAH primary adrenal insufficiency in pediatric and adolescent populations: A Single-Center study.
ABCD1
Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances-a recent review.
ABCD1
Generation of an urine-derived induced pluripotent stem cell line from a 6-year old X-linked adrenoleukodystrophy (X-ALD) patient.
ABCD1
Autonomic dysfunction in a patient with X-linked adrenoleukodystrophy.
ABCD1
A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy.
ABCD1
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.
ABCD1
Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon.
ABCD1

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