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Medline ® Abstract for Reference 13

of 'Hyperimmunoglobulin D syndrome: Pathophysiology'

13
TI
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.
AU
Houten SM, Frenkel J, Kuis W, Wanders RJ, Poll-The BT, Waterham HR
SO
J Inherit Metab Dis. 2000;23(4):367.
 
AD
Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.
PMID