PRENATAL-DIAGNOSIS AND HETEROZYGOTE DETECTION BY DNA ANALYSIS IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY

被引：22

作者：

SPENCE, JE

MADDALENA, A

OBRIEN, WE

FERNBACH, SD

BATSHAW, ML

LEONARD, CO

BEAUDET, AL

机构：

[1] BAYLOR COLL MED, INST MOLEC GENET, 1 BAYLOR PLAZA, HOUSTON, TX 77030 USA

[2] HOWARD HUGHES MED INST, HOUSTON, TX USA

[3] UNIV PENN, SCH MED, DEPT HUMAN GENET, PHILADELPHIA, PA 19104 USA

[4] JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21205 USA

[5] JOHNS HOPKINS UNIV, SCH MED, KENNEDY INST, BALTIMORE, MD 21205 USA

[6] UNIV UTAH, SCH MED, DEPT PEDIAT, SALT LAKE CITY, UT 84112 USA

来源：

JOURNAL OF PEDIATRICS | 1989年 / 114卷 / 04期

关键词：

D O I：

10.1016/S0022-3476(89)80697-3

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：582 / 588

页数：7

共 30 条

[1]

AYLSWORTH AS, 1975, AM J HUM GENET, V27, pA15

[2]

BARTSHAW ML, 1987, PEDIATR RES, V21, pA288

[3]

Batshaw M L, 1984, Curr Probl Pediatr, V14, P1

[4] RISK OF SERIOUS ILLNESS IN HETEROZYGOTES FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY [J].

BATSHAW, ML ;

MSALL, M ;

BEAUDET, AL ;

TROJAK, J .

JOURNAL OF PEDIATRICS, 1986, 108 (02) :236-241

[5] CEREBRAL-DYSFUNCTION IN ASYMPTOMATIC CARRIERS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY [J].

BATSHAW, ML ;

ROAN, Y ;

JUNG, AL ;

ROSENBERG, LA ;

BRUSILOW, SW .

NEW ENGLAND JOURNAL OF MEDICINE, 1980, 302 (09) :482-485

[6] TREATMENT OF INBORN-ERRORS OF UREA SYNTHESIS - ACTIVATION OF ALTERNATIVE PATHWAYS OF WASTE NITROGEN SYNTHESIS AND EXCRETION [J].

BATSHAW, ML ;

BRUSILOW, S ;

WABER, L ;

BLOM, W ;

BRUBAKK, AM ;

BURTON, BK ;

CANN, HM ;

KERR, D ;

MAMUNES, P ;

MATALON, R ;

MYERBERG, D ;

SCHAFER, IA .

NEW ENGLAND JOURNAL OF MEDICINE, 1982, 306 (23) :1387-1392

[7]

BEAUDET AL, 1987, HARRISONS PRINCIPLES, P296

[8] FAILURE OF PROTEIN LOADING TESTS TO IDENTIFY HETEROZYGOSITY FOR ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY [J].

BECROFT, DMO ;

BARRY, DMJ ;

WEBSTER, DR ;

SIMMONDS, HA .

JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (04) :157-159

[9] ALLOPURINOL (AP) INDUCED OROTIDINURIA (ODNU) - TEST OF HETEROZYGOSITY FOR ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY [J].

BRUSILOW, S ;

VALLE, D .

PEDIATRIC RESEARCH, 1987, 21 (04) :A289-A289

[10] IDENTIFICATION OF HETEROZYGOSITY FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTCD) [J].

BRUSILOW, SW ;

VALLE, DL .

PEDIATRIC RESEARCH, 1985, 19 (04) :A244-A244

← 1 2 3 →