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medicine

Novel genotype of mevalonic aciduria with fatalities in premature siblings

Archives of Disease in Childhood: Fetal and Neonatal Edition, Volume 89, No. 1, Year 2004

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.

Statistics
Citations: 16
Authors: 6
Affiliations: 2
Identifiers
Doi: 10.1136/fn.89.1.f90
ISSN: 00039888
e-ISSN: 13592998
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health

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