Novel genotype of mevalonic aciduria with fatalities in premature siblings [case report]

P. Raupp, E. Varady, M. Duran, R.J.A. Wanders, H.R. Waterham, S.M. Houten

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2 months of life. DNA analysis showed a novel mutation in the gene encoding mevalonate kinase
Original languageUndefined/Unknown
Pages (from-to)F90-F91
JournalArchives of Disease in Childhood
Volume89
Issue number1
DOIs
Publication statusPublished - 2004

Keywords

  • AMC wi-buiten

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