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Adrenoleukomyeloneuropathy presenting with spino-cerebellar ataxia in a young child

✍ Scribed by Mana Kurihara; Komei Kumagai; Saburo Yagishita; Masayuki Imai; Magoe Watanabe; Kihei Maekawa


Book ID
116137455
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
150 KB
Volume
17
Category
Article
ISSN
0387-7604

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Mevalonate kinase deficiency in a child
✍ K. M. Gibson; G. Hoffmann; W. L. Nyhan; L. Sweetman; R. Berger; R. Coultre; G. P πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 346 KB

Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Fam