PRENATAL-DIAGNOSIS OF THE UREA CYCLE DISEASES - A SURVEY OF THE EUROPEAN CASES

被引：19

作者：

KAMOUN, P

FENSOM, AH

SHIN, YS

BAKKER, E

COLOMBO, JP

MUNNICH, A

BIRD, S

CANINI, S

HUIJMANS, JGM

CHADEFAUXVEKEMANS, B

WHITFIELD, AE

KLEIJER, WJ

机构：

[1] HOP NECKER ENFANTS MALAD,INSERM,U12,GENET MED SERV,PARIS,FRANCE

[2] GUYS HOSP,PAEDIAT RES UNIT,SUPRAREG LAB GENET ENZYME DEFECTS,LONDON SE1 9RT,ENGLAND

[3] GUYS HOSP,DEPT CLIN CHEM,LONDON SE1 9RT,ENGLAND

[4] GUYS HOSP,INST CHILD HLTH,DIV BIOCHEM & GENET,ENZYME LAB,LONDON SE1 9RT,ENGLAND

[5] UNIV MUNICH,DR VON HAUMERSCHER KINDERSPITAL,KINDERKLIN,MUNICH,GERMANY

[6] LEIDEN UNIV,DEPT HUMAN GENET,2300 RA LEIDEN,NETHERLANDS

[7] ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET,3000 DR ROTTERDAM,NETHERLANDS

[8] INSELSPITAL BERN,DEPT CLIN CHEM,CH-3010 BERN,SWITZERLAND

[9] IST CLIN,BIOCHIM LAB,GENOA,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 55卷 / 02期

关键词：

ARGINASE; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHETASE; CARBAMOYLPHOSPHATE SYNTHETASE (AMMONIA); ORNITHINE TRANSCARBAMYLASE; PRENATAL DIAGNOSIS; UREA;

D O I：

10.1002/ajmg.1320550220

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A European survey of prenatal diagnosis cases involving urea cycle diseases was performed. Citrullinemia was the most frequently investigated disease (108 cases). Other diseases are, in order of frequency, argininosuccinic aciduria (75 cases), ornithine transcarbamylase defect (52 cases), carbamoylphosphate synthetase defect (8 cases), triple H (3 cases), and arginase deficiency (1 case). Only one disease (ornithine transcarbamylase defect) is presently diagnosed using molecular biology methods. (C) 1995 Wiley-Liss, Inc.

引用

页码：247 / 250

页数：4

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