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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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2004
2004
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25. Fox RM, Wood MH, Royse-Smith D, Sullivan WJ (1973) Hereditary orotic aciduria: types I and II. Am J Med 55: 791-798 26… 
1994
1994
Toxic and vascular nephropathy associated with orotic acid administration in laboratory cats.
Dr. Donna S. Dimski, Department of Veterinary Clinical Sciences, School of Veterinary Medicine, Louisiana State University, Baton… 
1988
1988
152 MOLECULAR CLONING OF HUMAN UMP SYNTHASE
In order to clarify the cause of hereditary orotic aciduria, UMP synthase (a multifunctional protein having both orotate… 
1984
1984
Absence of immune deficiency in hereditary orotic aciduria.
1984
1984
Absence of immune deficiency in hereditary orotic aciduria.
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… 
1975
1975
Determination of urinary carbamylaspartate and dihydro-orotate in normal subjects and in patients with hereditary orotic aciduria.
An isotope dilution assay for urinary dihydro-orotic acid and carbamylaspartic acid (CAA) has been developed which has been shown… 
Review
1975
Review
1975
[Disorders of human pyrimidine metabolism (author's transl)].
Pyrimidine synthesis and its regulation are presented. Among the disorders of human pyrimidine metabolism, hereditary orotic… 
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…