The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

No abstract is available for this paper.

• Publication year

  2012

• Venue

  JIMD Reports

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  DOI 10.1007/8904_2011_122PMID 23430945PMCID PMC3565682
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

  2009cited by this paper
• Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

  2008cited by this paper
• Ornithine transport via cationic amino acid transporter-1 is involved in ornithine cytotoxicity in retinal pigment epithelial cells.

  2007cited by this paper
• Dietary compliance in ornithine aminotransferase deficiency

  2006cited by this paper
• Newborn screening: toward a uniform screening panel and system.

  2006cited by this paper
• Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

  2006cited by this paper
• Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.

  2005cited by this paper
• Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

  2005influential reference
• Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy.

  2004cited by this paper
• Citrullinaemia type II : a rare cause of neonatal hepatitis detected by newborn screening

  2002cited by this paper
• Possible role of polyamines in gyrate atrophy.

  2000cited by this paper
• Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.

  1998cited by this paper
• Gyrate Atrophy of the Choroid and Retina: Lymphocyte Ornithine-δ-Aminotransferase Activity in Different Mutations and Carriers

  1998cited by this paper
• A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration.

  1996cited by this paper
• Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

  1992cited by this paper
• Gyrate atrophy of the choroid and retina. A five-year follow-up of creatine supplementation.

  1985cited by this paper
• Clinical trials of vitamin B6 and proline supplementation for gyrate atrophy of the choroid and retina.

  1985cited by this paper
• Gyrate atrophy of the choroid and retina. Early findings.

  1985cited by this paper
• Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina.

  1981cited by this paper
• The natural history of gyrate atrophy of the choroid and retina.

  1981cited by this paper
• Gyrate atrophy of the choroid and retina.

  1979cited by this paper
• LYMPHOID CELLS IN JEJUNAL MUCOSA

  1975cited by this paper
• Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.

  1974cited by this paper
• Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

  1973cited by this paper

• Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect

  2025cites this paper
• Beyond Ornithine Metabolism in Gyrate Atrophy: Tissue-Specific Proteomic Insights into Neonatal and Adult OAT Deficiency

  2025cites this paper
• Loss of Arginase 2 Disrupts Striatum-Specific Polyamine Homeostasis

  2025cites this paper
• The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand

  2025cites this paper
• Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

  2025cites this paper
• SLC25A38 is required for mitochondrial pyridoxal 5’-phosphate (PLP) accumulation

  2025cites this paper
• Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study

  2025cites this paper
• Reprogramming neuroblastoma by diet-enhanced polyamine depletion

  2025cites this paper
• Reprogramming neuroblastoma by diet-enhanced polyamine depletion

  2024cites this paper
• A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)

  2024cites this paper
• Liver‐directed gene therapy for ornithine aminotransferase deficiency

  2023influential citation
• Multivariate Independent Component Analysis Identifies Patients in Newborn Screening Equally to Adjusted Reference Ranges

  2023cites this paper
• A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy

  2022cites this paper
• Biomarker ratios.

  2022cites this paper
• A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).

  2021cites this paper
• Proline metabolism and transport in retinal health and disease

  2021cites this paper
• Systems Biology and Biomarkers in Necrotizing Soft Tissue Infections.

  2020cites this paper
• Reducing False-Positive Results in Newborn Screening Using Machine Learning

  2020cites this paper
• Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

  2020cites this paper
• Necrotizing Soft Tissue Infections: Clinical and Pathogenic Aspects

  2020influential citation
• Inborn errors of enzymes in glutamate metabolism

  2019cites this paper
• Citrulline

  2019cites this paper
• Simultaneous analysis of acetylcarnitine, proline, hydroxyproline, citrulline, and arginine as potential plasma biomarkers to evaluate NSAIDs‐induced gastric injury by liquid chromatography–tandem mass spectrometry

  2019cites this paper
• Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification

  2019cites this paper
• Proteomic Study on the New Potential Mechanism and Biomarkers of Diabetes

  2018cites this paper
• Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report

  2018cites this paper
• Ornithine Aminotransferase, an Important Glutamate-Metabolizing Enzyme at the Crossroads of Multiple Metabolic Pathways

  2017cites this paper
• Ornithine Aminotransferase Deficiency in Differential Diagnosis of Neonatal Hyperammonemia: A Case with a Novel OAT Gene Mutation

  2016cites this paper
• Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry

  2016cites this paper
• Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders

  2015cites this paper
• Optimization study for metabolomics analysis of human sweat by liquid chromatography-tandem mass spectrometry in high resolution mode.

  2014cites this paper
• Pediatric genetic macular and choroidal diseases

  2014cites this paper
• Citrulline: Pharmacological Perspectives and Role as a Biomarker in Diseases and Toxicities

  2014cites this paper
• Special issue: Responsible writing in science

  2014cites this paper
• Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

  2014cites this paper
• Reflections on univariate and multivariate analysis of metabolomics data

  2013cites this paper