First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1141-1142

  Rolland, M O ^a   Cuisset, L ^b   Le Bozec, J ^b   Guffon, N ^c   VianeySaban, C ^a  

^a HÔPITAL DEBROUSSE   (France)

^b Hôpital Cochin ^*  (France)

^c EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MEVALONIC ACID;

ACIDURIA; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; ENZYME ACTIVITY; EXON; FETUS; FETUS BLOOD; FIBROBLAST; FIRST TRIMESTER PREGNANCY; GENE MUTATION; HUMAN; HUMAN TISSUE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RISK ASSESSMENT;

CHORIONIC VILLI; CONSANGUINITY; CREATININE; DNA; EXONS; FEMALE; FIBROBLASTS; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; METABOLISM, INBORN ERRORS; MEVALONIC ACID; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; RISK; SERINE;

EID: 31644433906     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0147-1     Document Type: Article

References (4)

1. Gibson KM, Hoffmann G, Nyhan WL, et al (1988) Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur J Pediatr 148: 250-252.
2. Hass D, Hoffmann GF (2003) Mevalonic aciduria and hyperimmunoglobinemia D syndrome. Orphanet Encyclopedia. (http://www.orpha.net/data/patho/GB/ uk-MVA.html).
3. Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L (1986) Mevalonic aciduria - an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med 314: 1610-1614.
4. Hoffmann GF, Brendel SU, Scharfschwerdt SR, Shin YS, Speidel IM, Gibson KM (1992) Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J Inherit Metab Dis 15: 738-746.