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

Author:

Bonham J. R.1,Guthrie P.1,Downing M.1,Allen J. C.1,Tanner M. S.2,Sharrard M.2,Rittey C.3,Land J. M.3,Fensom A.4,O'Neill D.5,Duley J. A.6,Fairbanks L. D.6

Affiliation:

1. ; 1 Department of Chemical Pathology and Neonatal Screening; Children's Hospital NHS Trust; Sheffield UK

2. ; 2 Division of Child Health; Children's Hospital NHS Trust; Sheffield UK

3. ; 3 Department of Neurology; Children's Hospital NHS Trust; Sheffield UK

4. ; 5 SAS Laboratory for Genetic Enzyme Defects, Division of Medical and Molecular Genetics; Guy's and St Thomas' Hospital NHS Trust; London UK

5. ; 6 Department of Histopathology; Children's Hospital NHS Trust; Sheffield UK

6. ; 7 Purine Research Laboratory; Guy's and St Thomas' Hospitals NHS Trust; London UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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