Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder (Q28115559)

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English	Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder	scientific journal article

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scholarly article

1 reference

PubMed publication ID

3 January 2017

Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder (English)

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PubMed publication ID

3 January 2017

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urea cycle disorder

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author name string

José A. Camacho

1

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3 January 2017

Natalia Rioseco-Camacho

2

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3 January 2017

Dario Andrade

3

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3 January 2017

John Porter

4

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3 January 2017

Jin Kong

5

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3 January 2017

language of work or name

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publication date

1 August 2003

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3 January 2017

Molecular Genetics and Metabolism

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79

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3 January 2017

4

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257–271

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3 January 2017

Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study

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Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients.

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Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis

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Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

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Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

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Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome

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Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

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Kinetic characterization of the reconstituted ornithine carrier from rat liver mitochondria

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Identification and purification of the ornithine/citrulline carrier from rat liver mitochondria

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The purified and reconstituted ornithine/citrulline carrier from rat liver mitochondria: electrical nature and coupling of the exchange reaction with H+ translocation

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Identification of the yeast ARG-11 gene as a mitochondrial ornithine carrier involved in arginine biosynthesis

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The ARG11 gene of Saccharomyces cerevisiae encodes a mitochondrial integral membrane protein required for arginine biosynthesis

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Transport of arginine and ornithine into isolated mitochondria of Saccharomyces cerevisiae

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10.1016/S1096-7192(03)00105-7

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1 reference

PubMed publication ID

3 January 2017

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