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Titolo:
FETAL LIVER-BIOPSY FOR PRENATAL-DIAGNOSIS OF CARBAMOYL-PHOSPHATE SYNTHETASE DEFICIENCY
Autore:
MUROTSUKI J; UEHARA S; OKAMURA K; YAJIMA A; OURA T; MIYABAYASHI S;
Indirizzi:
TOHOKU UNIV,SCH MED,DEPT OBSTET & GYNECOL,1-1 SEIRYO MACHI,AOBA KU SENDAI MIYAGI 980 JAPAN
Titolo Testata:
American journal of perinatology
fascicolo: 2, volume: 11, anno: 1994,
pagine: 160 - 162
SICI:
0735-1631(1994)11:2<160:FLFPOC>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
NO
Recensione:
Indirizzi per estratti:
Citazione:
J. Murotsuki et al., "FETAL LIVER-BIOPSY FOR PRENATAL-DIAGNOSIS OF CARBAMOYL-PHOSPHATE SYNTHETASE DEFICIENCY", American journal of perinatology, 11(2), 1994, pp. 160-162

Abstract

Carbamoyl phosphate synthetase deficiency is a type of an inborn error of metabolism with a poor prognosis. Carbamoyl phosphate synthetase is a liver-specific enzyme, and its deficiency can only be diagnosed by enzyme assay using liver biopsy specimens. A pregnant woman at risk for carbamoyl phosphate synthetase deficiency was evaluated for the purpose of prenatal diagnosis of the condition. Fetal liver biopsy was performed at the 22nd week of gestation. The results of enzyme assays on fetal liver biopsy revealed normal enzymatic activity and the diagnosis of carbamoyl phosphate synthetase deficiency was ruled out prenatally. Methods and safety of fetal liver biopsy are discussed. Measurements of activity of liver-specific enzymes were evaluated with respect to methodology and manner of assessment. Prenatal diagnosis of deficiencies in liver specific enzymes, which have hitherto been considered difficult to detect before birth, has now become possible.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 08:06:53