A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family
Author:
Affiliation:
1. Department of Neurology The First Hospital of Jilin University Changchun China
2. Department of Endocrinology The Second Hospital of Jilin University Changchun China
Publisher
Wiley
Subject
Behavioral Neuroscience
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/brb3.1416
Reference19 articles.
1. Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study
2. Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy
3. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
4. X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment
5. X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy
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2. Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature;International Journal of Endocrinology;2022-02-07
3. A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review;Genes & Diseases;2021-09
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