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

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 328-330

  Davies, P M ^a   Fairbanks, L D ^a   Duley, J A ^a   Simmonds, H A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE; URACIL;

ADOLESCENT; ADULT; CHILD; CONFERENCE PAPER; CONTROLLED STUDY; FEMALE; HUMAN; MALE; METABOLIC DISORDER; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PYRIMIDINE METABOLISM; URINALYSIS; URINE LEVEL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NERVOUS SYSTEM DISEASES; ORNITHINE CARBAMOYLTRANSFERASE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; REFERENCE VALUES; URACIL;

EID: 0030860692     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005332606213     Document Type: Conference Paper

References (7)

1. Morris GS, Simmonds HA, Davies PM (1986) Use of biological fluids for the rapid diagnosis of potentially lethal inherited disorders of purine and pyrimidine metabolism. Biomed Chromatogr 1: 109-118.
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7. Van Gennip AH, Busch S, Elzinga L, et al (1993) Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation. Clin Chem 39: 380-385.