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Hyperornithinemia

Known as: Ornithine Ketoacid Aminotransferase Deficiency, Ornithine Delta Aminotransferase Deficiency, Deficiency, OAT 
Increased concentration of ornithine in the blood. [HPO:probinson]
National Institutes of Health

Papers overview

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2012
2012
BACKGROUND Amino acid disorders are a major group of inborn errors of metabolism (IEM) with variable clinical presentations. This… Expand
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2009
2009
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the… Expand
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2009
2009
The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle (UCD) and ornithine… Expand
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Review
2004
Review
2004
Arginase, often perceived solely as the last of the now six enzymes of the urea cycle, exists in two forms and has a broad tissue… Expand
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Highly Cited
2003
Highly Cited
2003
Two isoforms of the human ornithine carrier, ORC1 and ORC2, have been identified by overexpression of the proteins in bacteria… Expand
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2001
2001
The authors report the clinical and molecular findings in eight patients with hyperornithinemia, hyperammonemia, and… Expand
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1982
1982
In sonicates of mouse brain synaptosomes, we demonstrated that gamma-aminobutyric acid (GABA) can be formed when L-ornithine (Orn… Expand
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Highly Cited
1980
Highly Cited
1980
  • I. Sipilä
  • Biochimica et biophysica acta
  • 1980
  • Corpus ID: 980840
The inhibitory effect of ornithine on L-arginine:glycine amidinotransferase (EC 2.1.4.1) was studied in crude rat kidney… Expand
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1979
1979
We studied 21 patients with gyrate atrophy of the choroid and retina and hyperornithinemia. Although the patients were not weak… Expand
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1975
1975
A case of gyrate atrophy of the choroid and retina and hyperornithinemia in a 28-year-old man was subjected to extensive clinical… Expand
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