A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference26 articles.
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4. X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes;Berger;Biochem. Biophys. Res. Commun.,1994
5. Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy;Cartier;Hum. Mol. Genet.,1993
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1. Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review;Molecular Genetics & Genomic Medicine;2024-07
2. S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy;Oncotarget;2017-09-18
3. Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia;PLOS ONE;2017-05-08
4. Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review;Neuropathology;2015-07-31
5. Leukoencephalopathy in adults: Is it adrenoleukodystrophy? A case report and molecular analysis;Journal of the Neurological Sciences;2009-10
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