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

doi:https://doi.org/10.1136/fn.89.1.F90

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

Paediatric Metabolic Diseases (AMC)

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

14 Citations (Scopus)

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	Undefined/Unknown
Pages (from-to)	F90-F91
Journal	Archives of disease in childhood
Volume	89
Issue number	1
DOIs	https://doi.org/10.1136/fn.89.1.F90
Publication status	Published - 2004

Keywords

AMC wi-buiten

Access to Document

https://doi.org/10.1136/fn.89.1.F90

https://pure.uva.nl/ws/files/3635990/44544_203127y.pdf

Cite this

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title = "Novel genotype of mevalonic aciduria with fatalities in premature siblings [case report]",

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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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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