EVIDENCE FOR X-LINKED DOMINANT INHERITANCE OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY

被引:119
作者
SHORT, EM
CONN, HO
SNODGRASS, PJ
CAMPBELL, AG
ROSENBERG, LE
机构
[1] YALE UNIV, SCH MED, DEPT MED, DIV MED GENET, NEW HAVEN, CT 06510 USA
[2] YALE UNIV, SCH MED, DEPT PEDIAT, NEW HAVEN, CT 06510 USA
[3] W HAVEN VET HOSP, W HAVEN, CT 06516 USA
[4] HARVARD UNIV, PETER BENT BRIGHAM HOSP, MED SCH, BOSTON, MA 02115 USA
关键词
D O I
10.1056/NEJM197301042880102
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:7 / 12
页数:6
相关论文
共 22 条
[1]   ORNITHINE TRANSCARBAMYLASE DEFICIENCY - A CAUSE OF LETHAL NEONATAL HYPERAMMONEMIA IN MALES [J].
CAMPBELL, AG ;
ROSENBERG, LE ;
SNODGRASS, PJ ;
NUZUM, CT .
NEW ENGLAND JOURNAL OF MEDICINE, 1973, 288 (01) :1-6
[2]  
CONN HO, 1967, J LAB CLIN MED, V70, P442
[3]  
CONN HO, 1972, YALE J BIOL MED, V45, P543
[4]   PERIODIC ATTACKS OF LETHARGY IN A BABY WITH AMMONIA INTOXICATION DUE TO A CONGENITAL DEFECT IN UREOGENESIS [J].
CORBEEL, LM ;
COLOMBO, JP ;
VANSANDE, M ;
WEBER, A .
ARCHIVES OF DISEASE IN CHILDHOOD, 1969, 44 (238) :681-&
[5]   DEMONSTRATION OF 2 POPULATIONS OF CELLS IN HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATEDEHYDROGENASE VARIANTS [J].
DAVIDSON, RG ;
NITOWSKY, HM ;
CHILDS, B .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1963, 50 (03) :481-&
[6]   HYPERAMMONAEMIA DUE TO ORNITHINE TRANSCARBAMYLASE DEFICIENCY [J].
HOPKINS, IJ ;
CONNELLY, JF ;
DAWSON, AG ;
HIRD, FJR ;
MADDISON, TG .
ARCHIVES OF DISEASE IN CHILDHOOD, 1969, 44 (234) :143-&
[7]  
Kang Etsuko Hae-Jin, IN PRESS
[8]   HYPERAMMONAEMIA - A DEFICIENCY OF LIVER ORNITHINE TRANSCARBAMYLASE - OCCURRENCE IN MOTHER AND CHILD [J].
LEVIN, B ;
ABRAHAM, JM ;
OBERHOLZER, VG ;
BURGESS, EA .
ARCHIVES OF DISEASE IN CHILDHOOD, 1969, 44 (234) :152-+
[9]   HYPERAMMONAEMIA - A VARIANT TYPE OF DEFICIENCY OF LIVER ORNITHINE TRANSCARBAMYLASE [J].
LEVIN, B ;
DOBBS, RH ;
BURGESS, EA ;
PALMER, T .
ARCHIVES OF DISEASE IN CHILDHOOD, 1969, 44 (234) :162-&
[10]  
LEVIN B, 1969, LANCET, V2, P170