The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

Journal of Inherited Metabolic Disease

Volumn 22, Issue 2, 1999, Pages 174-184

  Bonham, J R ^a   Guthrie, P ^a   Downing, M ^a   Allen, J C ^a   Tanner, M S ^a   Sharrard, M ^a   Rittey, C ^a   Land, J M ^b   Fensom, A ^c   O'Neill, D ^a   Duley, J A ^d   Fairbanks, L D ^d  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^d ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; AMINO ACID; CARBAMATE KINASE; CARBOXYLIC ACID; CREATININE; MITOCHONDRIAL DNA; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID;

AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; ARTICLE; CHILD; CLINICAL ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; FEMALE; HISTOLOGY; HUMAN; INFANT; LIVER BIOPSY; LOADING TEST; MALE; MUSCLE BIOPSY; NEWBORN; RESPIRATORY CHAIN; UREA CYCLE; URINARY EXCRETION;

EID: 0032953027     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005406205548     Document Type: Article

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