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- Publications
- Influence
Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease.
- K. Sharma, Bethany E. Karl, +21 authors R. Naviaux
- Biology, Medicine
- Journal of the American Society of Nephrology…
- 1 November 2013
Diabetic kidney disease is the leading cause of ESRD, but few biomarkers of diabetic kidney disease are available. This study used gas chromatography-mass spectrometry to quantify 94 urine… Expand
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
Abstract A syndrome consisting of hyperuricema, mental retardation, choreoathetosis and self-destructive biting has been described in two brothers aged five and eight years. The uric acid pools in… Expand
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, Medicine
- Mutation research
- 1 October 2000
In humans, mutations in the gene encoding the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) are associated with a spectrum of disease that ranges from hyperuricemia… Expand
Disorders of purine and pyrimidine metabolism.
- W. Nyhan
- Biology, Medicine
- Molecular genetics and metabolism
- 1 September 2005
The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical presentations and in the mechanisms by which these presentations result from the fundamental mutations. In… Expand
Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria
- J. Sloan, J. Johnston, +21 authors C. Venditti
- Biology, Medicine
- Nature Genetics
- 25 July 2011
We used exome sequencing to identify the genetic basis of combined malonic and methylmalonic aciduria (CMAMMA). We sequenced the exome of an individual with CMAMMA and followed up with sequencing of… Expand
Physiology and pathophysiology of organic acids in cerebrospinal fluid
- G. Hoffmann, W. Meier-Augenstein, S. Stöckler, R. Surtees, D. Rating, W. Nyhan
- Chemistry, Medicine
- Journal of Inherited Metabolic Disease
- 1 July 1993
SummaryConcentrations of organic acids in cerebrospinal fluid (CSF) appear to be directly dependent upon their rate of production in the brain. There is evidence that the net release of short-chain… Expand
Agenesis of the lung. Report of four patients with unusual anomalies.
- M. Mardini, W. Nyhan
- Medicine
- Chest
- 1 April 1985
Four patients had pulmonary agenesis. All were symptomatic in infancy. In three, symptoms improved during two to six years of follow-up. One, who died at one month, had a unique combination of… Expand
Lesch‐Nyhan Disease: Clinical Experience with Nineteen Patients
- R. Christie, C. Bay, I. Kaufman, B. Bakay, M. Borden, W. Nyhan
- Medicine
- Developmental medicine and child neurology
- 1 August 1982
The clinical phenotype in Lesch‐Nyhan disease has been analyzed in 19 patients studied in hospital. In each case the diagnosis was made on the basis of inactivity of the enzyme hypoxanthine guanine… Expand
Behavior in the Lesch-Nyhan syndrome
- W. Nyhan
- Psychology, Medicine
- Journal of autism and childhood schizophrenia
- 1 September 1976
The Lesch-Nyhan syndrome is a heritable disorder of the metabolism of uric acid in which behavioral manifestations are prominent and among the most provocative. The mutated or variant gene that… Expand