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Titolo:
PRENATAL AND POSTNATAL DIAGNOSIS OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY USING ENZYME AND METABOLITE ASSAYS
Autore:
GIBSON KM; BAUMANN C; OGIER H; ROSSIER E; VOLLMER B; JAKOBS C;
Indirizzi:
BAYLOR UNIV,MED CTR,BAYLOR RES INST,3812 ELM ST DALLAS TX 75226 BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB DDALLAS TX 75226 HOP ROBERT DEBRE,DEPT PEDIAT F-75935 PARIS 19 FRANCE UNIV TUBINGEN,INST ANTHROPOL & HUMAN GENET,DEPT CLIN GENET W-7400 TUBINGEN GERMANY UNIV TUBINGEN,CHILDRENS HOSP,DEPT NEUROPEDIAT W-7400 TUBINGEN GERMANY FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT 1081 HV AMSTERDAM NETHERLANDS
Titolo Testata:
Journal of inherited metabolic disease
fascicolo: 6, volume: 17, anno: 1994,
pagine: 732 - 737
SICI:
0141-8955(1994)17:6<732:PAPDOS>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
CULTURED HUMAN-LYMPHOBLASTS; 4-HYDROXYBUTYRIC ACIDURIA; PRENATAL-DIAGNOSIS; BRAIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
K.M. Gibson et al., "PRENATAL AND POSTNATAL DIAGNOSIS OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY USING ENZYME AND METABOLITE ASSAYS", Journal of inherited metabolic disease, 17(6), 1994, pp. 732-737

Abstract

We report our cumulative experience for the prenatal diagnosis of succinic semialdehyde dehydrogenase (SSADH) deficiency in seven 'at-risk'pregnancies from four unrelated families. Prenatal diagnosis was performed by determination of 4-hydroxybutyric acid (4-HBA) concentration in amniotic fluid using isotope-dilution gas chromatography-mass spectrometry in conjunction with assay of SSADH activity in biopsied chorionic villus and/or cultured amniocytes. In three of four pregnancies predicted as affected, confirmation was obtained by demonstration of deficient SSADH activity in fetal tissues. Our results suggest that determination of 4-HBA concentration in amniotic fluid combined with enzymedetermination in cultured or biopsied tissue represents a reliable method for the prenatal diagnosis of SSADH deficiency.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 16:37:33