Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
1ST-TRIMESTER PRENATAL-DIAGNOSIS OF CANAVAN DISEASE
Autore:
ROLLAND MO; DIVRY P; MANDON G; THOULON JM; FIUMARA A; MATHIEU M;
Indirizzi:
HOP DEBROUSSE,CTR ETUD MALAD METAB,29 RUE SOEUR BOUVIER F-69322 LYON 05 FRANCE HOP HOTEL DIEU,SERV OBSTET F-69002 LYON FRANCE UNIV CATANIA,PEDIAT CLIN I-95124 CATANIA ITALY
Titolo Testata:
Journal of inherited metabolic disease
fascicolo: 3, volume: 16, anno: 1993,
pagine: 581 - 583
SICI:
0141-8955(1993)16:3<581:1POCD>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
N-ACETYLASPARTIC ACIDURIA; ASPARTOACYLASE DEFICIENCY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
7
Recensione:
Indirizzi per estratti:
Citazione:
M.O. Rolland et al., "1ST-TRIMESTER PRENATAL-DIAGNOSIS OF CANAVAN DISEASE", Journal of inherited metabolic disease, 16(3), 1993, pp. 581-583

Abstract

Canavan disease (McKusick 27190) is an autosomal recessive leukodystrophy characterized by aspartoacylase (EC 3.5.1.15) deficiency, associated with increased N-acetylaspartate (NAA) concentrations in body fluids. Prenatal diagnosis has been performed previously on cultured amniotic fluid cells (Matalon et al 1988), by measuring aspartoacylase activity or in amniotic fluid by detecting NAA accumulation (Jakobs et al 1991) in the second trimester of pregnancy. We report a positive first-trimester prenatal diagnosis by measurement of aspartoacylase activity in fresh chorionic villus samples (CVS) obtained at the 11th week ofamenorrhoea.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 08:28:54