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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

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2004
2004
BACKGROUND The small bowel is believed to play a crucial role in endogenous arginine synthesis. Therefore, an insufficient… Expand
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1995
1995
Ornithine transcarbamylase deficiency is an X-linked recessive disorder of urea biosynthesis characterized by recurrent, often… Expand
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1990
1990
Ornithine carbamoyltransferase is an X-linked mitochondrial enzyme expressed in hepatocytes and enterocytes. A deficiency of this… Expand
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1988
1988
ll. Tubergen DG, Krooth RS, Heyn RM. Hereditary orotic aciduria with normal growth and development. Am J Dis Child 1969;118:864… Expand
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1987
1987
The essentiality of dietary arginine was examined in adult humans with three biochemical indices: plasma levels of ammonium and… Expand
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1984
1984
The role of arginine as an essential amino was evaluated in four children with one of the deficiencies of carbamyl phosphate… Expand
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1984
1984
English Pointer puppies were used in experiments designed to assess urea cycle function. A preliminary assay revealed a dietary… Expand
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1983
1983
Four experiments were conducted with an arginine (Arg)-deficient, semipurified diet to determine the Arg requirement of the… Expand
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1983
1983
HEREDITARY orotic aciduria is a rare inborn error of pyrimidine metabolism that is associated with autosomal recessive… Expand
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1981
1981
Summary: Urinary excretion of orotic acid was measured in controls and in subjects homozygous and heterozygous for lysinuric… Expand
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