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Hereditary orotic aciduria, type 1

Known as: OPRT AND ODC DEFICIENCY, Uridine monophosphate synthetase deficiency, Oroticaciduria 1 
National Institutes of Health

Papers overview

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Highly Cited
1995
Highly Cited
1990
Highly Cited
1990
Ornithine carbamoyltransferase is an X-linked mitochondrial enzyme expressed in hepatocytes and enterocytes. A deficiency of this… 
1987
1987
The essentiality of dietary arginine was examined in adult humans with three biochemical indices: plasma levels of ammonium and… 
Highly Cited
1984
Highly Cited
1984
  • S. Brusilow
  • The Journal of clinical investigation
  • 1984
  • Corpus ID: 21960475
The role of arginine as an essential amino was evaluated in four children with one of the deficiencies of carbamyl phosphate… 
1984
1984
English Pointer puppies were used in experiments designed to assess urea cycle function. A preliminary assay revealed a dietary… 
Highly Cited
1983
Highly Cited
1983
Four experiments were conducted with an arginine (Arg)-deficient, semipurified diet to determine the Arg requirement of the… 
Highly Cited
1974
Highly Cited
1974
Extract: We have described a patient with ornithine transcarbamylase (OTC) deficiency. The clinical course and pedigree… 
Review
1970
Review
1970
A case of orotic aciduria is reported and the clinical features reviewed. Replacement therapy with uridine achieved a striking… 
Highly Cited
1961
Highly Cited
1961
Orotic aciduria is a rare disorder which has thus far been described only in the propositus (1). This patient, a 9 month old…