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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2010
2010
Mutations in the SLC25A15 gene, encoding the human inner mitochondrial membrane ornithine transporter, are thought to be… (More)
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2008
2008
We report on two Aboriginal patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Both presented… (More)
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2001
2001
The authors report the clinical and molecular findings in eight patients with hyperornithinemia, hyperammonemia, and… (More)
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1997
1997
We report on a neonate with hyperammonemic coma in whom hyperornithinemia-hyperammonemia-homocitrullinuria syndrome was diagnosed… (More)
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1992
1992
We report the clinical, electrophysiologic, ophthalmologic, and neuropsychologic features of six patients with hyperammonemia… (More)
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1990
1990
A 39-year-old man and his 42-year-old sister, both vegetarians, had episodic confusion for many years, but their mental function… (More)
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1985
1985
ABSTRACT: Impairment of urea cycle function in hyperornithinemia- hyperammonemia-homocitrullinuria syndrome is presumably caused… (More)
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1978
1978
A metabolic study in a case of hyperornithinemia with gyrate atrophy of choroid and retina is presented. It is demonstrated that… (More)
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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… (More)
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