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Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy

✍ Scribed by Ernst W. Krasemann,V. Meier,G. C. Korenke,D. H. Hunneman,F. Hanefeld


Book ID
118291911
Publisher
Springer
Year
1996
Tongue
English
Weight
554 KB
Volume
97
Category
Article
ISSN
0340-6717

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Adrenoleukodystrophy ( ALD) is a X-linked peroxisomal disease with a highly variable phenotypic expression. While childhood cerebral ALD is the most severe and common form of the disease, adrenomyeloneuropathy (AMN) is a milder clinical form, that arises during adult life. Adrenal insufficiency (Add