X-linked adrenoleukodystrophy with parti
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Tadashi Matsumoto; Noriko Miyake; Yoshiaki Watanabe; Gaku Yamanaka; Shingo Oana;
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Article
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2005
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John Wiley and Sons
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English
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X-linked adrenoleukodystrophy (X-ALD) is a congenital peroxysomal disorder caused by mutations in the ALD protein gene (ALD or ABCD1) located to Xq28 [Mosser et al., 1993]. Its phenotype is variable, ranging from the severe childhood cerebral form that is associated with rapidly progressive demyelin