×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy.
28503596 2019
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
27084228 2016
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
GeneticVariation
CLINVAR
Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.
26227820 2016
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
27067449 2016
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.
26388597 2016
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
26454440 2015
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
24722136 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
24719134 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
An under-recognised cause of spastic paraparesis in middle-aged women.
24154795 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
GeneticVariation
CLINVAR
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
24719134 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.
24685009 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
GeneticVariation
CLINVAR
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
24480483 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
GeneticVariation
CLINVAR
A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.
25324868 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
24788897 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
24480483 2014
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.
23419472 2013
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Epilepsy in adult X-linked adrenoleucodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene.
23154058 2013
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
23566833 2013
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Parallel assessment of globin lentiviral transfer in induced pluripotent stem cells and adult hematopoietic stem cells derived from the same transplanted β-thalassemia patient.
23712774 2013
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
23768953 2013
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
23835273 2013
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.
23671276 2013
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.
23430809 2013
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Gene therapy on demand: site specific regulation of gene therapy.
23566848 2013
×
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
Adrenoleukodystrophy
1.000
CausalMutation
CLINVAR
Amongst 489 X-ALD families tested at Kennedy Krieger Institute, we identified 20 cases in which the ABCD1 mutation was de novo in the index case, indicating that the mutation arose in the maternal germ line and supporting a new mutation rate of at least 4.1% for this group.
21700483 2012