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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

Related topics

Related topics

7 relations
Anemia, MegaloblasticAutosomal recessive inheritanceHematuriaUMPS gene

Broader (2)

OROTATE PHOSPHORIBOSYLTRANSFERASEOROTIDINE-5'-PHOSPHATE DECARBOXYLASE

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
1995
Highly Cited
1995
Hereditary orotic aciduria and other disorders of pyrimidine metabolism
Highly Cited
1988
Highly Cited
1988
Oropharyngeal and upper respiratory tract mucosal-gland siderosis in neonatal hemochromatosis: an approach to biopsy diagnosis.
1987
1987
An arginine-deficient diet in humans does not evoke hyperammonemia or orotic aciduria.
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
Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
The role of arginine as an essential amino was evaluated in four children with one of the deficiencies of carbamyl phosphate… 
1984
1984
Urea cycle function in the dog with emphasis on the role of arginine.
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
Cellular immune deficiency in two siblings with hereditary orotic aciduria.
HEREDITARY orotic aciduria is a rare inborn error of pyrimidine metabolism that is associated with autosomal recessive… 
Highly Cited
1974
Highly Cited
1974
Metabolic and Genetic Studies of a Family with Ornithine Transcarbamylase Deficiency
Extract: We have described a patient with ornithine transcarbamylase (OTC) deficiency. The clinical course and pedigree… 
Highly Cited
1973
Highly Cited
1973
Orotic Aciduria and Arginine Deficiency
GROWING rats1, guinea-pigs2, rabbits3 and possibly human beings4 require dietary arginine for optimum nitrogen retention and… 
Review
1970
Review
1970
HEREDITARY OROTIC ACIDURIA
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
PYRIMIDINE METABOLISM IN MAN. IV. THE ENZYMATIC DEFECT OF OROTIC ACIDURIA.
Orotic aciduria is a rare disorder which has thus far been described only in the propositus (1). This patient, a 9 month old… 
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