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Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease.
- K. Sharma, Bethany E. Karl, R. Naviaux
- Medicine, BiologyJournal of the American Society of Nephrology…
- 1 November 2013
TLDR
Disorders of purine and pyrimidine metabolism.
- W. Nyhan
- Biology, ChemistryMolecular genetics and metabolism
- 1 September 2005
Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria
- J. Sloan, J. Johnston, C. Venditti
- BiologyNature Genetics
- 25 July 2011
TLDR
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
- H. Jinnah, L. De Gregorio, J. Harris, W. Nyhan, J. O’Neill
- Biology, MedicineMutation research
- 1 October 2000
Physiology and pathophysiology of organic acids in cerebrospinal fluid
- G. Hoffmann, W. Meier-Augenstein, S. Stöckler, R. Surtees, D. Rating, W. Nyhan
- Biology, MedicineJournal of Inherited Metabolic Disease
- 1 July 1993
TLDR
Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome
- R. Naviaux, W. Nyhan, R. Haas
- Medicine, Biology
- 1 January 1999
TLDR
Agenesis of the lung. Report of four patients with unusual anomalies.
- M. Mardini, W. Nyhan
- MedicineChest
- 1 April 1985
TLDR
Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.
- K. Hiraga, H. Kochi, K. Hayasaka, G. Kikuchi, W. Nyhan
- BiologyThe Journal of clinical investigation
- 1 August 1981
TLDR
Atlas of metabolic diseases
- W. Nyhan, B. Barshop, P. Ozand
- Medicine
- 1998
TLDR
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