RISK OF SERIOUS ILLNESS IN HETEROZYGOTES FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY

被引：121

作者：

BATSHAW, ML

MSALL, M

BEAUDET, AL

TROJAK, J

机构：

[1] JOHNS HOPKINS UNIV, SCH MED, KENNEDY INST HANDICAPPED CHILDREN, BALTIMORE, MD 21205 USA

[2] BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA

来源：

JOURNAL OF PEDIATRICS | 1986年 / 108卷 / 02期

关键词：

D O I：

10.1016/S0022-3476(86)80989-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

收藏

页码：236 / 241

页数：6

相关论文

共 23 条

[1] AYLSWORTH AS, 1975, AM J HUM GENET, V27, pA15
[2] BACHMANN C, 1982, UREA CYCLE DISEASES, P313
[3] Batshaw M L, 1984, Curr Probl Pediatr, V14, P1
[4] CEREBRAL-DYSFUNCTION IN ASYMPTOMATIC CARRIERS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
BATSHAW, ML
ROAN, Y
JUNG, AL
ROSENBERG, LA
BRUSILOW, SW
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1980, 302 (09) : 482 - 485
[5] TREATMENT OF INBORN-ERRORS OF UREA SYNTHESIS - ACTIVATION OF ALTERNATIVE PATHWAYS OF WASTE NITROGEN SYNTHESIS AND EXCRETION
BATSHAW, ML
BRUSILOW, S
WABER, L
BLOM, W
BRUBAKK, AM
BURTON, BK
CANN, HM
KERR, D
MAMUNES, P
MATALON, R
MYERBERG, D
SCHAFER, IA
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1982, 306 (23) : 1387 - 1392
[6] IDENTIFICATION OF HETEROZYGOSITY FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTCD)
BRUSILOW, SW
VALLE, DL
[J]. PEDIATRIC RESEARCH, 1985, 19 (04) : A244 - A244
[7] BRUSILOW SW, 1984, NEW ENGL J MED, V310, P1631
[8] VITAMIN D-RESISTANT RICKETS - ANALYSIS OF 24 PEDIGREES WITH HEREDITARY + SPORADIC CASES
BURNETT, CH
WARLAND, BJ
HARPER, C
DENT, CE
[J]. AMERICAN JOURNAL OF MEDICINE, 1964, 36 (02) : 222 - &
[9] DESNICK RJ, 1983, METABOLIC BASIS INHE, P906
[10] ADDITIONAL RESTRICTION FRAGMENT LENGTH POLYMORPHISMS (RFLPS) FOR DETECTION OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY
FOX, J
ROZEN, R
FENTON, W
HORWICH, A
ROSENBERG, LE
[J]. PEDIATRIC RESEARCH, 1985, 19 (04) : A247 - A247