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Mevalonate Kinase Deficiency and Autoinflammatory Disorders

โœ Scribed by Haas, Dorothea; Hoffmann, Georg F.

Book ID
111916043
Publisher
Massachusetts Medical Society
Year
2007
Tongue
English
Weight
123 KB
Volume
356
Category
Article
ISSN
0096-6762

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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