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Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

โœ Scribed by K. M. Gibson; G. F. Hoffmann; L. Sweetman; B. Buckingham

Book ID
111716189
Publisher
Springer
Year
1997
Tongue
English
Weight
13 KB
Volume
20
Category
Article
ISSN
0141-8955

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๐Ÿ“œ SIMILAR VOLUMES

Mevalonate kinase deficiency in a child
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria
โœ K. M. Gibson; G. Hoffmann; W. L. Nyhan; L. Sweetman; R. Berger; R. Coultre; G. P ๐Ÿ“‚ Article ๐Ÿ“… 1988 ๐Ÿ› Springer ๐ŸŒ English โš– 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