Novel genotype of mevalonic aciduria with fatalities in premature siblings. Issue 1 (1st January 2004)
- Record Type:
- Journal Article
- Title:
- Novel genotype of mevalonic aciduria with fatalities in premature siblings. Issue 1 (1st January 2004)
- Main Title:
- Novel genotype of mevalonic aciduria with fatalities in premature siblings
- Authors:
- Raupp, P
Varady, E
Duran, M
Wanders, R J A
Waterham, H R
Houten, S M - Abstract:
- 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.
- Is Part Of:
- Archives of disease in childhood. Volume 89:Issue 1(2004)
- Journal:
- Archives of disease in childhood
- Issue:
- Volume 89:Issue 1(2004)
- Issue Display:
- Volume 89, Issue 1 (2004)
- Year:
- 2004
- Volume:
- 89
- Issue:
- 1
- Issue Sort Value:
- 2004-0089-0001-0000
- Page Start:
- F90
- Page End:
- F91
- Publication Date:
- 2004-01-01
- Subjects:
- very low birthweight infant -- premature -- organic aciduria
Infants -- Diseases -- Periodicals
Newborn infants -- Diseases -- Periodicals
Fetus -- Diseases -- Periodicals
618.920105 - Journal URLs:
- http://fn.bmjjournals.com ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/fn.89.1.F90 ↗
- Languages:
- English
- ISSNs:
- 1359-2998
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store - Ingest File:
- 18182.xml