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PW03-021 - HSCT in mevalonate kinase deficiency

✍ Scribed by B Wolska-Kuśnierz,B Mikołuć,R Motkowski,K Kałwak…

Book ID: 126376550
Publisher: BioMed Central
Year: 2013
Tongue: English
Weight: 86 KB
Volume: 11
Category: Article
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-S1-A247

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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