Novel genotype of mevalonic aciduria with fatalities in premature siblings

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

doi:10.1136/fn.89.1.f90

Novel genotype of mevalonic aciduria with fatalities in premature siblings

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

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

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 language	English
Pages (from-to)	F90-F91
Journal	Archives of Disease in Childhood: Fetal and Neonatal Edition
Volume	89
Issue number	1
DOIs	https://doi.org/10.1136/fn.89.1.f90
State	Published - Jan 2004
Externally published	Yes

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title = "Novel genotype of mevalonic aciduria with fatalities in premature siblings",

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.",

author = "P. Raupp and E. Varady and M. Duran and Wanders, {R. J.A.} and Waterham, {H. R.} and Houten, {S. M.}",

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AU - Waterham, H. R.

AU - Houten, S. M.

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AB - 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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JO - Archives of Disease in Childhood: Fetal and Neonatal Edition

JF - Archives of Disease in Childhood: Fetal and Neonatal Edition

IS - 1

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Novel genotype of mevalonic aciduria with fatalities in premature siblings

Abstract

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