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Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
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Clinical utility gene card for: adrenoleukodystrophy.
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A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report.
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[X-linked adrenoleukodystrophy (X-ALD)].
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X-linked adrenoleukodystrophy.
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A case of adult-onset adrenoleukodystrophy with frontal lobe dysfunction: a novel point mutation in the ABCD1 gene.
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Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy.
Methods Enzymol. 2012;507:187-98. doi: 10.1016/B978-0-12-386509-0.00010-7.
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Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated.
Mol Genet Metab. 2012 Feb;105(2):180-5. doi: 10.1016/j.ymgme.2011.11.001. Epub 2011 Nov 10.
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Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes.
Eur J Pediatr. 2011 Aug;170(8):1049-54. doi: 10.1007/s00431-011-1401-1. Epub 2011 Jan 29.
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Biochemical aspects of X-linked adrenoleukodystrophy.
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"Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy.
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X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.
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Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.
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X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients.
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