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Hereditary Orotic Aciduria

Known as: OROTIC ACIDURIA, HEREDITARY 
An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of… 
National Institutes of Health

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Hereditary DiseasesInborn Errors of Metabolism

Papers overview

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2010
2010
Orotic acid quantification in dried blood spots and biological fluids by hydrophilic interaction liquid chromatography tandem mass spectrometry.
Orotic acid (ORA) is an intermediate metabolite in the pathway of pyrimidine nucleotides; its urinary excretion is useful to… 
1998
1998
Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.
We report a family with hereditary orotic aciduria heterozygotes. A 3-year-old boy who had been diagnosed as having cerebral… 
1997
1997
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency
Orotic acid is a key intermediate in the pyrimidine de novo biosynthetic pathway. Increased excretion occurs in hereditary orotic… 
1991
1991
First report of management and outcome of pregnancies associated with hereditary orotic aciduria.
Two pregnancies in a 25-year-old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are… 
1988
1988
Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts.
Hereditary orotic aciduria is an autosomal recessive disease in which there is a severe deficiency in the activity of the de novo… 
Review
1975
Review
1975
Hereditary orotic aciduria: results of a screening survey.
Urine from 1,358 mentally retarded subjects was screened for the presence of elevated concentrations of orotic acid and orotidine… 
1973
1973
The orotic aciduria of pregnancy.
1973
1973
Hereditary orotic aciduria: types I and II.
1969
1969
Hereditary orotic aciduria with normal growth and development.
Hereditary orotic aciduria was found in a 7-year-old girl who had anemia, leukopenia, a megaloblastic bone marrow, crystalluria… 
1964
1964
A GENETIC STUDY OF HEREDITARY OROTIC ACIDURIA.
HEREDITARY orotic aciduria is a disorder of pyrimidine metabolism manifested by megaloblastic anemia, leukopenia, retarded growth… 
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