Rare variability in adrenoleukodystrophy: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13256-018-1722-z.pdf
Reference6 articles.
1. Kemp S, Berger J, Aubourg P. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta. 2012;1822:1465–74.
2. van Geel BM, Bezman L, Loes DJ, Moser HW, Raymond GV. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. Ann Neurol. 2001;49:186–94.
3. Teriitehau C, Adamsbaum C, Merzoug V, Kalifa G, Tourbah A, Aubourg P. Subtle brain abnormalities in adrenomyeloneuropathy. J Radiol. 2007;88:957–61.
4. Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2007;3:140–51.
5. Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, et al. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis. 2012;7:51.
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1. Adrenoleukodystrophy: A Rare Clinical Scenario;Indian Journal of Private Psychiatry;2024-01-03
2. A Case of Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in <i>ABCD1</i>;Internal Medicine;2023
3. A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy;Case Reports in Genetics;2019-12-31
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