CARBAMYL-PHOSPHATE-SYNTHETASE DEFICIENCY WITH NEONATAL ONSET OF SYMPTOMS

被引:20
作者
FARRIAUX, JP
PONTE, C
POLLITT, RJ
LEQUIEN, P
FORMSTECHER, P
DHONDT, JL
机构
[1] CTR HOSP REG LILLE,CITE HOSP,SERV GENET & MALADIES HEREDITAIRES METAB ENFANT,LILLE,FRANCE
[2] HOP A CALMETTE,SERV PEDIAT PATHOL PREMIER AGE,LILLE,FRANCE
[3] MIDDLEWOOD HOSP,MRC,METAB STUDIES PSYCHIAT UNIT,SHEFFIELD,ENGLAND
来源
ACTA PAEDIATRICA SCANDINAVICA | 1977年 / 66卷 / 04期
关键词
D O I
10.1111/j.1651-2227.1977.tb07940.x
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:529 / 534
页数:6
相关论文
共 30 条
[1]  
ADACHI TORU, 1963, J VITAMINOL, V9, P217
[2]   CASE OF CARBAMYL PHOSPHATE SYNTHETASE DEFICIENCY [J].
ARASHIMA, S ;
MATSUDA, I .
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1972, 107 (02) :143-147
[3]   TREATMENT OF CARBAMYL-PHOSPHATE SYNTHETASE DEFICIENCY WITH KETO ANALOGUES OF ESSENTIAL AMINO-ACIDS [J].
BATSHAW, M ;
BRUSILOW, S ;
WALSER, M .
NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (21) :1085-1090
[4]  
BROWN GW, 1959, J BIOL CHEM, V234, P1769
[5]  
CANDES RD, 1972, PEDIAT RES, V6, P394
[6]  
CARTIGNY B, 1975, LILLE MED, V20, P169
[7]  
CATHELINEAU L, 1972, ARCH FR PEDIATR, V29, P713
[8]   METHYLMALONIC ACIDEMIA AND NONKETOTIC HYPERGLYCINEMIA - CLINICAL AND BIOCHEMICAL ASPECTS [J].
CORBEEL, L ;
TADA, K ;
COLOMBO, JP ;
EECKELS, R ;
EGGERMONTS, E ;
JAEKEN, J ;
DENTANDT, W ;
HARVENGT, L ;
DELHAYE, J ;
DELOECKER, W .
ARCHIVES OF DISEASE IN CHILDHOOD, 1975, 50 (02) :103-109
[9]  
DURAN M, 1974, THESIS UTRECHT