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One or more keywords matched the following items that are connected to Shih, Vivian
Item TypeName
Academic Article A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
Academic Article Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3.
Academic Article Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
Academic Article Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Academic Article Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.
Academic Article Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation.
Academic Article Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.
Academic Article Gyrate atrophy of the choroid and retina in a 5-year-old girl.
Academic Article Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
Academic Article Long-term follow-up of four patients affected by HHH syndrome.
Academic Article Reduction of hyperornithinemia with a low protein, low arginine diet and pyridoxine in patients with a deficiency of ornithine-ketoacid transaminase (OKT) activity and gyrate atrophy of the choroid and retina.
Academic Article Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.
Academic Article Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Academic Article Defective ornithine metabolism in the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Academic Article Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.
Academic Article Lethal ornithine transcarbamylase deficiency in a female neonate.
Academic Article Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
Academic Article Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.
Academic Article Regulation of ornithine metabolism.
Academic Article Letter: Metabolic defect in hyperornithinaemia.
Academic Article Congenital hyperammonemic syndromes.
Academic Article Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
Academic Article A two year trial of low protein, low arginine diets or vitamin B6 for patients with gyrate atrophy.
Academic Article Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Academic Article Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina.
Academic Article Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.
Academic Article The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.
Academic Article Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.
Academic Article Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
Academic Article Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture.
Academic Article Ocular findings in patients with gyrate atrophy on pyridoxine and low-protein, low-arginine diets.
Concept Ornithine Carbamoyltransferase Deficiency Disease
Concept Ornithine Carbamoyltransferase
Concept Ornithine-Oxo-Acid Transaminase
Concept Ornithine
Grant NEW AMINO ACID DISORDERS IN CEREBRAL DISEASE
Search Criteria
  • Ornithine
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.