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Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease.
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 urineExpand
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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 inExpand
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The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
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 hyperuricemiaExpand
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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. InExpand
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Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria
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 ofExpand
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Physiology and pathophysiology of organic acids in cerebrospinal fluid
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-chainExpand
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Agenesis of the lung. Report of four patients with unusual anomalies.
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 ofExpand
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Lesch‐Nyhan Disease: Clinical Experience with Nineteen Patients
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 guanineExpand
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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 thatExpand
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Propionic acidemia: a clinical update.
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