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  • Title: Novel genotype of mevalonic aciduria with fatalities in premature siblings.
    Author: Raupp P, Varady E, Duran M, Wanders RJ, Waterham HR, Houten SM.
    Journal: Arch Dis Child Fetal Neonatal Ed; 2004 Jan; 89(1):F90-1. PubMed ID: 14711867.
    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.
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