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Weekly oral alendronate in mevalonate kinase deficiency

✍ Scribed by Cantarini, Luca; Vitale, Antonio; Magnotti, Flora; Lucherini, Orso; Caso, Francesco; Frediani, Bruno; Galeazzi, Mauro; Rigante, Donato

Book ID
121579131
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
159 KB
Volume
8
Category
Article
ISSN
1750-1172

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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