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Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy.
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Adrenoleukodystrophy presenting as spinocerebellar degeneration.
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A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.
Ann Neurol. 1999 May;45(5):652-5. doi: 10.1002/1531-8249(199905)45:5<652::aid-ana14>3.0.co;2-m.
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[Adrenoleukodystrophy: significance for genetic counseling of the determination of very long-chain fatty acids and of molecular biology].
Ann Pediatr (Paris). 1990 Mar;37(3):157-61.
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[Familial adrenoleukodystrophy].
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Adrenoleukodystrophy without adrenal insufficiency and its magnetic resonance imaging.
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Adrenoleukodystrophy: manifestations of a protean disorder: report of a recently identified kindred.
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X-linked adrenoleukodystrophy: spinocerebellar variant.
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[Apropos of a familial case of adrenoleukodystrophy related to X chromosome diagnosed prenatally].
Pediatrie. 1987;42(4):297-301.
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Linkage of adrenoleukodystrophy to a polymorphic DNA probe.
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引用本文的文献
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X-linked cerebral adrenoleukodystrophy.
BMJ Case Rep. 2023 Oct 31;16(10):e237905. doi: 10.1136/bcr-2020-237905.
2
Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.
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3
A case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction.
J Mov Disord. 2009 Oct;2(2):91-4. doi: 10.14802/jmd.09025. Epub 2009 Oct 30.
4
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
Yonsei Med J. 2014 May;55(3):676-82. doi: 10.3349/ymj.2014.55.3.676. Epub 2014 Apr 1.
5
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.
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Ataxic variant of adrenoleukodystrophy: MRI and CT findings.
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Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration.
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Chorea induced by oral contraceptives.
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Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.
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Bone marrow transplant in adrenoleukodystrophy.
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Adrenoleukodystrophy: detection of increased very long chain fatty acids by high-performance liquid chromatography.
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Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy.
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