The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease-Reference-Cited by-同舟云学术

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

Published:1999-04 Issue:2 Volume:22 Page:174-184
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005406205548/fullpdf

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4. Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet;Cederbaum;J Inher Metab Dis,1982

5. Orotidinuria induced by allopurinol;Fox;Science,1970

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