Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism

被引:12
作者
Davies, PM
Fairbanks, LD
Duley, JA
Simmonds, HA
机构
关键词
D O I
10.1023/A:1005332606213
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
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页码:328 / 330
页数:3
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共 7 条
[1]  
Morris G S, 1986, Biomed Chromatogr, V1, P109, DOI 10.1002/bmc.1130010305
[2]  
OHBA S, 1991, ADV EXP MED BIOL, V309, P27
[3]   ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY WITH SUBNORMAL ENZYME-ACTIVITY [J].
RABIER, D ;
GUILLOIS, B ;
BARDET, J ;
DEPRUN, C ;
PARVY, P ;
KAMOUN, P .
JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (05) :842-843
[4]   THE ALLOPURINOL LOADING TEST FOR IDENTIFICATION OF CARRIERS FOR ORNITHINE CARBAMOYL TRANSFERASE DEFICIENCY - STUDIES IN A HEALTHY CONTROL POPULATION AND FEMALES AT RISK [J].
SEBESTA, I ;
FAIRBANKS, LD ;
DAVIES, PM ;
SIMMONDS, HA ;
LEONARD, JV .
CLINICA CHIMICA ACTA, 1994, 224 (01) :45-54
[5]   URINARY-EXCRETION OF PURINE AND PYRIMIDINE METABOLITES IN THE NEONATE [J].
VANACKER, KJ ;
EYSKENS, FJ ;
VERKERK, RM ;
SCHARPE, SS .
PEDIATRIC RESEARCH, 1993, 34 (06) :762-766
[6]  
VANGENNIP AH, 1980, CLIN CHIM ACTA, V104, P227, DOI 10.1016/0009-8981(80)90200-4
[7]  
VANGENNIP AH, 1993, CLIN CHEM, V39, P380