ornithine and Gyrate Atrophy

ornithine has been researched along with Gyrate Atrophy in 56 studies

Research

Studies (56)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's16 (28.57)18.2507
2000's19 (33.93)29.6817
2010's12 (21.43)24.3611
2020's9 (16.07)2.80

Authors

AuthorsStudies
Artunay, O; Balci, S; Ozcaliskan, S1
Bryant, E; Gonik, B; Kanninen, T; Koerner, C1
Elnahry, AG; Elnahry, GA1
Burr, A; da Palma, MM; Igelman, AD; Koerner, C; Ku, C; Pennesi, ME; Shevchenko Sutherland, L; Valle, D; Yang, P1
Audano, M; Auricchio, A; Bellezza, I; Boffa, I; Brunetti-Pierri, N; Caterino, M; Cellini, B; De Stefano, L; Dell'Aquila, F; Marrocco, E; Mitro, N; Nusco, E; Pedretti, S; Polishchuk, E; Ruoppolo, M1
Borri Voltattorni, C; Cellini, B; Floriani, F; Montioli, R1
Schultink, P1
Bellezza, I; Borri Voltattorni, C; Cellini, B; Desbats, MA; Montioli, R; Salviati, L1
Chawla, R; Jena, S; Mansour, AM; Tripathy, K1
Abulafia, A; Anikster, Y; Heller, D; Koren, T; Landau, Y; Nasie, I; Pokroy, R; Pras, E; Weiner, C1
Alessi, S; Cillino, G; Cillino, S; Iggui, A; Mazza, M; Piozzi, E; Santambrogio, S1
Black, G; Jasani, KM; Kelly, SP; Parry, NRA1
Abdel-Kader, AA; Elnahry, AG; Hassan, FK1
Chen, R; Cheng, J; Duan, C; Fu, J; Fu, S; Huang, J; Li, Y; Liu, L; Lv, H; Nie, K; Yang, L1
Eto, Y; Gekka, T; Hayashi, T; Ida, H; Katagiri, S; Ohashi, T; Tsuneoka, H1
Blatsios, G; Entenmann, A; Höller, A; Karall, D; Michel, M; Pichler, K; Scholl-Bürgi, S; Wernstedt, A; Zschocke, A1
Cheillan, D; Dessein, AF; Dobbelaere, D; Fontaine, M; Joncquel-Chevalier Curt, M; Mention-Mulliez, K; Porchet, N; Soto-Ares, G; Vamecq, J; Voicu, PM1
Bhakhri, R; Ridder, WH1
Ando, A; Furuta, K; Ito, S; Kaneko, S; Maeda, M; Ohnaka, M; Okuda-Ashitaka, E; Suzuki, M; Takahashi, K1
Fiebig, BS; Jägle, H; Renner, AB; Walter, A1
Alagoz, M; Erdogan, H; Firat, M; Tanzer, F1
Falck, B; Heinänen, K; Heinonen, OJ; Jääskeläinen, S; Näntö-Salonen, K; Peltola, KE; Simell, O1
Mayer, UM1
Ando, A; Ito, S; Matsumura, M; Nakauchi, T; Ueda-Yamada, M; Uyama, M; Yamazaki, Y1
Costagliola, C; D'Aloia, A; D'Avanzo, A; del Giudice, EM; Perrone, L; Prisco, F; Santinelli, R; Tolone, C1
Caruso, RC; Kaiser-Kupfer, MI; Reed, GF; Valle, D1
Ito, T; Ohkubo, Y; Ozawa, K; Sumi, S; Togari, H; Ueta, A; Yamada, M1
Andrade, RE; Belfort, R; Muccioli, C; Oliveira, TL; Sallum, J1
Ahmet, I; Serdar, KS1
Barbier, R; Caron, O; Dollfus, H; Fleury, M; Mohr, M; Tranchant, C; Warter, JM; Ziegler, F1
Lawler, AM; Milam, AH; Sipila, I; Steel, G; Valle, D; Wang, T1
Firoozmand, S; Ibraheim, AS; Khan, MY1
Bonaventure, N; Daune-Anglard, G; Seiler, N1
Brody, LC; Mitchell, GA; Sipilä, I; Valle, D1
Alanen, A; Heinänen, K; Kalimo, H; Näntö-Salonen, K; Simell, O; Valtonen, M1
Fishman, GA; Foerster, MH; Kellner, U; Kennaway, NG; Weleber, RG1
Csaky, KG; Jensen, TG; Sullivan, DM; Taichman, LB1
Ohura, T1
Babu, SV; Christopher, R; Shetty, KT1
Alanen, A; Erkintalo, M; Heinänen, K; Heinonen, OJ; Komu, M; Näntö-Salonen, K; Nikoskelainen, E; Pulkki, K; Simell, O; Sipilä, I1
Alanen, A; Erkintalo, M; Heinänen, K; Heinonen, OJ; Jääskeläinen, S; Lundbom, N; Näntö-Salonen, K; Simell, O; Valtonen, M1
Inana, G; Kennaway, NG; Mashima, YG; Weleber, RG1
Ando, A; Ito, S; Masu, Y; Okumura, T; Ueda, M; Uyama, M1
Milam, AH; Steel, G; Valle, D; Wang, T1
Abraham, F; Masos, T; Sela, BA; Yablonski, G; Zlotnik, J1
Heinonen, OJ; Näntö-Salonen, K; Peltola, K; Pulkki, K; Simell, O1
Mahesh, L; Punitham, R; Ramakrishnan, S; Sulochana, KN1
Heinänen, K; Heinonen, OJ; Jääskeläinen, S; Näntö-Salonen, K; Nikoskelainen, E; Peltola, KE; Simell, O1
Angioï-Duprez, K; George, JL; Maalouf, T1
Elpeleg, N; Korman, SH1
Christopher, R; L, N; Shenoi, A1
Caruso, RC; Kaiser-Kupfer, MI; Valle, D2
McCarthy, J; Richardson, J; Steel, D; Wood, CM1
Abeling, NG; Bakker, HD; van Gennip, AH; van Schooneveld, MJ; Wanders, RJ1
Hirose, T; Katsumi, O; Mehta, MC; Shih, VE1

Reviews

5 review(s) available for ornithine and Gyrate Atrophy

ArticleYear
Gyrate Atrophy of the Choroid and Retina: A Review.
    European journal of ophthalmology, 2022, Volume: 32, Issue:3

    Topics: Atrophy; Choroid; Gyrate Atrophy; Humans; Ornithine; Ornithine-Oxo-Acid Transaminase; Retina

2022
Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.
    Biochimica et biophysica acta. Proteins and proteomics, 2021, Volume: 1869, Issue:1

    Topics: Arginine; Choroid; Chromosomes, Human, Pair 10; Coenzymes; Diet; Gene Expression; Gyrate Atrophy; Humans; Models, Molecular; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Protein Multimerization; Protein Structure, Secondary; Pyridoxal Phosphate; Retina; Vitamin B 6

2021
Creatine biosynthesis and transport in health and disease.
    Biochimie, 2015, Volume: 119

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; AMP-Activated Protein Kinases; Animals; Biological Transport, Active; Brain Diseases, Metabolic, Inborn; Creatine; Developmental Disabilities; Energy Metabolism; Guanidinoacetate N-Methyltransferase; Gyrate Atrophy; Humans; Hyperammonemia; Intellectual Disability; Language Development Disorders; Mental Retardation, X-Linked; Methylation; Mitochondrial Membrane Transport Proteins; Movement Disorders; Mutation; Nerve Tissue Proteins; Ornithine; Plasma Membrane Neurotransmitter Transport Proteins; Prenatal Diagnosis; S-Adenosylmethionine; Speech Disorders; Urea Cycle Disorders, Inborn

2015
[Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish disease].
    Duodecim; laaketieteellinen aikakauskirja, 1994, Volume: 110, Issue:7

    Topics: Blindness; Finland; Gyrate Atrophy; Humans; Metabolism, Inborn Errors; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase

1994
[Gyrate atrophy of the choroid and retina].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Diagnosis, Differential; Disease Models, Animal; Gyrate Atrophy; Humans; Infant, Newborn; Mice; Mice, Knockout; Ornithine; Ornithine-Oxo-Acid Transaminase; Prognosis

1998

Trials

3 trial(s) available for ornithine and Gyrate Atrophy

ArticleYear
Creatine corrects muscle 31P spectrum in gyrate atrophy with hyperornithinaemia.
    European journal of clinical investigation, 1999, Volume: 29, Issue:12

    Topics: Adolescent; Adult; Child; Creatine; Dietary Supplements; Female; Glycine; Gyrate Atrophy; Humans; Magnetic Resonance Spectroscopy; Male; Methionine; Middle Aged; Muscle, Skeletal; Ornithine; Phosphorus Isotopes

1999
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.
    Journal of inherited metabolic disease, 1999, Volume: 22, Issue:8

    Topics: Adolescent; Adult; Aged; Brain; Central Nervous System; Child; Child, Preschool; Choroid; Creatine; Electroencephalography; Female; Gyrate Atrophy; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Ornithine; Ornithine-Oxo-Acid Transaminase; Retina

1999
Oral lysine feeding in gyrate atrophy with hyperornithinaemia--a pilot study.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4

    Topics: Administration, Oral; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Awards and Prizes; Drug Tolerance; Feeding Behavior; Gyrate Atrophy; Humans; Lysine; Male; Middle Aged; Ornithine; Pilot Projects; Societies, Medical

2000

Other Studies

48 other study(ies) available for ornithine and Gyrate Atrophy

ArticleYear
A Case of Foveoschisis Associated with Ornithine Aminotransferase Deficiency and Gyrate Atrophy.
    Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2021, Volume: 31, Issue:11

    Topics: Atrophy; Female; Fluorescein Angiography; Gyrate Atrophy; Humans; Ornithine; Ornithine-Oxo-Acid Transaminase; Retina

2021
First reported case of pregnancy in a patient with ornithine aminotransferase deficiency.
    Nutrition (Burbank, Los Angeles County, Calif.), 2022, Volume: 93

    Topics: Amino Acids; Arginine; Atrophy; Female; Gyrate Atrophy; Humans; Ornithine; Ornithine-Oxo-Acid Transaminase; Pregnancy

2022
A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.
    Ophthalmic genetics, 2023, Volume: 44, Issue:2

    Topics: Arginine; Biomarkers; Diet; Female; Gyrate Atrophy; Humans; Lysine; Middle Aged; Ornithine; Pyridoxine; Tomography, Optical Coherence

2023
Liver-directed gene therapy for ornithine aminotransferase deficiency.
    EMBO molecular medicine, 2023, 04-11, Volume: 15, Issue:4

    Topics: Animals; Genetic Therapy; Gyrate Atrophy; Liver; Mice; Ornithine; Ornithine-Oxo-Acid Transaminase; Retinal Degeneration

2023
Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
    International journal of molecular sciences, 2023, Feb-08, Volume: 24, Issue:4

    Topics: Atrophy; Choroid; Gyrate Atrophy; Humans; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Pyridoxal Phosphate; Retina

2023
View from inside-Gyrate atrophy: From defeat to action.
    Journal of inherited metabolic disease, 2023, Volume: 46, Issue:5

    Topics: Atrophy; Gyrate Atrophy; Humans; Ornithine; Retina

2023
Ultrawide field imaging to document the progression of gyrate atrophy of the choroid and retina over 5 years.
    BMJ case reports, 2021, Aug-17, Volume: 14, Issue:8

    Topics: Adolescent; Atrophy; Child; Choroid; Diagnostic Imaging; Female; Fundus Oculi; Gyrate Atrophy; Humans; Male; Ornithine; Retina

2021
Reversal of cystoid macular edema in gyrate atrophy patients.
    Ophthalmic genetics, 2017, Volume: 38, Issue:6

    Topics: Administration, Oral; Adolescent; Adult; Combined Modality Therapy; Consanguinity; Diet, Protein-Restricted; DNA Mutational Analysis; Exons; Female; Gyrate Atrophy; Humans; Macular Edema; Male; Ornithine; Ornithine-Oxo-Acid Transaminase; Pyridoxine; RNA Splice Sites; RNA, Messenger; Tomography, Optical Coherence; Visual Acuity; Vitamin B Complex

2017
Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy.
    European journal of ophthalmology, 2017, Nov-08, Volume: 27, Issue:6

    Topics: Acetazolamide; Administration, Ophthalmic; Administration, Oral; Adolescent; Anti-Inflammatory Agents, Non-Steroidal; Carbonic Anhydrase Inhibitors; Drug Therapy, Combination; Female; Gyrate Atrophy; Humans; Indomethacin; Macular Edema; Ophthalmic Solutions; Ornithine; Ornithine-Oxo-Acid Transaminase; Tomography, Optical Coherence; Visual Acuity

2017
Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG).
    BMJ case reports, 2018, Feb-05, Volume: 2018

    Topics: Adult; Cataract; Cataract Extraction; Diet, Protein-Restricted; Disease Progression; Electroretinography; Female; Gyrate Atrophy; Humans; Lens Implantation, Intraocular; Ornithine; Pyridoxine; Retinal Degeneration; Treatment Outcome; Visual Fields; Vitamins

2018
Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina.
    Ophthalmic genetics, 2018, Volume: 39, Issue:6

    Topics: Adolescent; Angiogenesis Inhibitors; Bevacizumab; Cysts; Female; Fluorescein Angiography; Gyrate Atrophy; Humans; Intravitreal Injections; Ornithine; Retinal Diseases; Tomography, Optical Coherence; Vascular Endothelial Growth Factor A; Visual Acuity; Visual Fields

2018
Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant.
    The British journal of ophthalmology, 2019, Volume: 103, Issue:3

    Topics: Asian People; China; Choroid; Consanguinity; DNA Mutational Analysis; DNA Primers; Electroretinography; Female; Fluorescein Angiography; Gyrate Atrophy; High-Throughput Nucleotide Sequencing; Humans; Ornithine; Ornithine-Oxo-Acid Transaminase; Pedigree; Phenotype; Retina; Reverse Transcriptase Polymerase Chain Reaction; Tandem Mass Spectrometry; Tomography, Optical Coherence

2019
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
    Documenta ophthalmologica. Advances in ophthalmology, 2014, Volume: 128, Issue:2

    Topics: Asian People; Atrophy; Child; Choroid; Electroretinography; Frameshift Mutation; Gyrate Atrophy; Humans; Infant; Male; Ornithine; Ornithine-Oxo-Acid Transaminase; Pedigree; Polymerase Chain Reaction; Retina; Siblings; Tomography, Optical Coherence; Visual Acuity; Visual Field Tests; Visual Fields

2014
Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation.
    Klinische Padiatrie, 2015, Volume: 227, Issue:5

    Topics: Adolescent; Chromosomes, Human, Pair 10; Consanguinity; DNA Mutational Analysis; Exons; Fluorescein Angiography; Gyrate Atrophy; Humans; Male; Ornithine; Phenotype; Tomography, Optical Coherence

2015
Gyrate Atrophy-Like Phenotype: Normal Plasma Ornithine and Retinal Crystals.
    Optometry and vision science : official publication of the American Academy of Optometry, 2016, Volume: 93, Issue:9

    Topics: Biomarkers; Color Vision; Female; Gyrate Atrophy; Humans; Middle Aged; Ornithine; Phenotype; Retina; Tomography, Optical Coherence

2016
Induction of arginase II mRNA by nitric oxide using an in vitro model of gyrate atrophy of choroid and retina.
    Investigative ophthalmology & visual science, 2011, Mar-18, Volume: 52, Issue:3

    Topics: Animals; Arginase; Boronic Acids; Cell Line; Enzyme Inhibitors; Gyrate Atrophy; Humans; Models, Biological; Nitric Oxide; Ornithine; Retinal Pigment Epithelium; Reverse Transcriptase Polymerase Chain Reaction; RNA Interference; RNA, Messenger; Swine; Tetrazolium Salts; Thiazoles; Up-Regulation

2011
Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
    Documenta ophthalmologica. Advances in ophthalmology, 2012, Volume: 125, Issue:1

    Topics: Adult; Arginine; Diet, Protein-Restricted; Electroretinography; Female; Fluorescein Angiography; Follow-Up Studies; Gyrate Atrophy; Humans; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Tomography, Optical Coherence; Visual Acuity; Visual Field Tests; Visual Fields

2012
Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6.
    BMJ case reports, 2011, Mar-15, Volume: 2011

    Topics: Biomarkers; Child; Cystinuria; Female; Gyrate Atrophy; Humans; Lysine; Night Blindness; Ornithine; Pyridoxine; Vitamin B Complex

2011
Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia.
    Neurology, 2002, Sep-10, Volume: 59, Issue:5

    Topics: Adolescent; Adult; Aged; Choroid Diseases; Electromyography; Evoked Potentials, Auditory, Brain Stem; Evoked Potentials, Somatosensory; Female; Founder Effect; Gyrate Atrophy; Homozygote; Humans; Male; Middle Aged; Ornithine; Peripheral Nervous System; Retinal Diseases; Sensory Thresholds

2002
[Hyperornithinaemia in patients with retinal dystrophy].
    Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2003, Volume: 100, Issue:1

    Topics: Aged; Amino Acid Metabolism, Inborn Errors; Electroretinography; Female; Fluorescein Angiography; Fundus Oculi; Gyrate Atrophy; Humans; Male; Middle Aged; Ornithine; Retinal Dysplasia; Visual Field Tests

2003
Prevention of ornithine cytotoxicity by nonpolar side chain amino acids in retinal pigment epithelial cells.
    Investigative ophthalmology & visual science, 2003, Volume: 44, Issue:11

    Topics: Amino Acid Transport System y+; Amino Acids; Amino Acids, Cyclic; Cell Survival; Cells, Cultured; Colorimetry; Cytoprotection; Fusion Regulatory Protein 1, Heavy Chain; Fusion Regulatory Protein 1, Light Chains; Gyrate Atrophy; Humans; Large Neutral Amino Acid-Transporter 1; Ornithine; Ornithine-Oxo-Acid Transaminase; Pigment Epithelium of Eye; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Tetrazolium Salts; Thiazoles

2003
Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up.
    Journal of inherited metabolic disease, 2004, Volume: 27, Issue:2

    Topics: Adult; Child, Preschool; Choroid; Diet, Protein-Restricted; Electrooculography; Female; Follow-Up Studies; Gyrate Atrophy; Homozygote; Humans; Ornithine; Ornithine-Oxo-Acid Transaminase; Retina; Retinal Degeneration; Visual Fields

2004
Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy.
    Archives of ophthalmology (Chicago, Ill. : 1960), 2004, Volume: 122, Issue:7

    Topics: Adolescent; Adult; Aged; Arginine; Child; Diet, Protein-Restricted; Disease Progression; Electroretinography; Female; Follow-Up Studies; Gyrate Atrophy; Humans; Male; Middle Aged; Ornithine; Patient Compliance; Retina; Vision Disorders; Visual Field Tests; Visual Fields

2004
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
    The Tohoku journal of experimental medicine, 2005, Volume: 205, Issue:4

    Topics: Adult; Amino Acid Substitution; Child; Female; Gyrate Atrophy; Humans; Male; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Pedigree; Protein Structure, Secondary; Structure-Activity Relationship; Vitamin B 6

2005
Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation.
    American journal of ophthalmology, 2005, Volume: 140, Issue:1

    Topics: Child; Choroid; Fluorescein Angiography; Gyrate Atrophy; Humans; Macular Edema; Male; Ornithine; Retina; Tomography, Optical Coherence

2005
Osteoporosis associated with gyrate atrophy: a case report.
    Documenta ophthalmologica. Advances in ophthalmology, 2006, Volume: 113, Issue:1

    Topics: Adult; Alanine; Female; Fluorescein Angiography; Glutamic Acid; Gyrate Atrophy; Humans; Lysine; Ornithine; Osteoporosis

2006
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.
    Journal of neurology, neurosurgery, and psychiatry, 2007, Volume: 78, Issue:6

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Diet, Protein-Restricted; Gyrate Atrophy; Humans; Male; Muscular Diseases; Ornithine; Ornithine-Oxo-Acid Transaminase; Pyridoxine; Vitamin B Complex

2007
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.
    Nature genetics, 1995, Volume: 11, Issue:2

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Arginine; Base Sequence; DNA Primers; Food, Fortified; Genotype; Gyrate Atrophy; Humans; Infant; Lysine; Mammals; Mice; Mice, Mutant Strains; Molecular Sequence Data; Ornithine; Ornithine-Oxo-Acid Transaminase; Phenotype; Polymerase Chain Reaction; Retina; Retinal Degeneration

1995
Gyrate atrophy of the choroid and retina with hyperornithinaemia, cystinuria and lysinuria.
    Eye (London, England), 1994, Volume: 8 ( Pt 3)

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cystinuria; Diabetes Mellitus, Type 1; Female; Fluorescein Angiography; Gyrate Atrophy; Humans; Hyperopia; Lysine; Ornithine; Ornithine-Oxo-Acid Transaminase

1994
Some biochemical and pathophysiological aspects of long-term elevation of brain ornithine concentrations.
    Pharmacology & toxicology, 1993, Volume: 73, Issue:1

    Topics: Animals; Brain; Carnosine; Chickens; Disease Models, Animal; Electroretinography; Eye; Female; gamma-Aminobutyric Acid; Gyrate Atrophy; Longitudinal Studies; Mice; Mice, Inbred C57BL; Ornithine; Ornithine-Oxo-Acid Transaminase

1993
Skeletal muscle of patients with gyrate atrophy of the choroid and retina and hyperornithinaemia in ultralow-field magnetic resonance imaging and computed tomography.
    Journal of inherited metabolic disease, 1996, Volume: 19, Issue:6

    Topics: Adolescent; Adult; Biopsy; Child; Choroid Diseases; Female; Gyrate Atrophy; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Muscle, Skeletal; Ornithine; Retinal Diseases; Tomography, X-Ray Computed

1996
Gyrate atrophy-like phenotype with normal plasma ornithine.
    Retina (Philadelphia, Pa.), 1997, Volume: 17, Issue:5

    Topics: Adult; Aged; Aged, 80 and over; Atrophy; Choroid; Dark Adaptation; Electrooculography; Electroretinography; Fluorescein Angiography; Fundus Oculi; Gyrate Atrophy; Humans; Male; Middle Aged; Ornithine; Pedigree; Phenotype; Retina; Visual Acuity; Visual Fields

1997
Ornithine-delta-aminotransferase expression and ornithine metabolism in cultured epidermal keratinocytes: toward metabolic sink therapy for gyrate atrophy.
    Gene therapy, 1997, Volume: 4, Issue:10

    Topics: Adenoviridae; Cell Culture Techniques; Epidermis; Gene Expression; Genetic Therapy; Genetic Vectors; Gyrate Atrophy; Humans; Keratinocytes; Ornithine; Ornithine-Oxo-Acid Transaminase; Skin

1997
Hyperornithinaemia associated with gyrate atrophy of the choroid and retina: two cases from India.
    Annals of clinical biochemistry, 1999, Volume: 36 ( Pt 4)

    Topics: Adult; Choroid Diseases; Gyrate Atrophy; Humans; India; Male; Middle Aged; Ornithine; Retinal Diseases

1999
Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.
    Ophthalmic genetics, 1999, Volume: 20, Issue:4

    Topics: Amino Acid Sequence; Amino Acid Substitution; Base Sequence; DNA; DNA Mutational Analysis; Family Health; Female; Genotype; Gyrate Atrophy; Heterozygote; Humans; Male; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Phenotype; Point Mutation; Pyridoxine; Treatment Outcome

1999
Heterogeneity in ornithine cytotoxicity of bovine retinal pigment epithelial cells in primary culture.
    Experimental eye research, 2000, Volume: 70, Issue:1

    Topics: Animals; Cattle; Cell Death; Cells, Cultured; DNA; Drug Synergism; Enzyme Inhibitors; Gyrate Atrophy; Ornithine; Ornithine-Oxo-Acid Transaminase; Pigment Epithelium of Eye; Proline

2000
Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina.
    Proceedings of the National Academy of Sciences of the United States of America, 2000, Feb-01, Volume: 97, Issue:3

    Topics: Amino Acids; Animals; Arginine; Choroid; Disease Models, Animal; Electroretinography; Gyrate Atrophy; Mice; Mice, Knockout; Ornithine; Ornithine-Oxo-Acid Transaminase; Retina; Retinal Degeneration

2000
[Gyrate atrophy of choroid and retina, and hyperornithinemia].
    Harefuah, 2000, Jan-16, Volume: 138, Issue:2

    Topics: Adult; Cataract; Choroid; Disease Progression; Gyrate Atrophy; Humans; Male; Middle Aged; Myopia; Night Blindness; Ornithine; Ornithine-Oxo-Acid Transaminase; Retina; Vision Disorders; Visual Fields

2000
Possible role of polyamines in gyrate atrophy.
    Indian journal of ophthalmology, 2000, Volume: 48, Issue:1

    Topics: Adolescent; Adult; Aged; Biomarkers; Cadaverine; Chromatography, High Pressure Liquid; Diagnosis, Differential; Female; Gyrate Atrophy; Humans; Lysine; Male; Middle Aged; Ornithine; Ornithine-Oxo-Acid Transaminase; Polyamines

2000
Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.
    Ophthalmology, 2001, Volume: 108, Issue:4

    Topics: Adolescent; Adult; Cataract; Child; Child, Preschool; Choroid; Cross-Sectional Studies; Electroretinography; Female; Genetic Heterogeneity; Genotype; Gyrate Atrophy; Humans; Male; Middle Aged; Mutation; Myopia; Ornithine; Ornithine-Oxo-Acid Transaminase; Retina; Visual Acuity; Visual Field Tests; Visual Fields

2001
[Gyrate atrophy and craniopharyngioma: a case report].
    Journal francais d'ophtalmologie, 2001, Volume: 24, Issue:5

    Topics: Adolescent; Craniopharyngioma; Female; Genes, Recessive; Gyrate Atrophy; Humans; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Pituitary Neoplasms; Visual Acuity

2001
Sustained oral lysine supplementation in ornithine delta-aminotransferase deficiency.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:3

    Topics: Adolescent; Adult; Gyrate Atrophy; Humans; Lysine; Ornithine; Ornithine-Oxo-Acid Transaminase

2001
Hyperornithinemia associated with gyrate atrophy of the choroid and retina in a child with myopia.
    Indian pediatrics, 2001, Volume: 38, Issue:8

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Consanguinity; Female; Gyrate Atrophy; Humans; India; Myopia; Ornithine; Ornithine-Oxo-Acid Transaminase

2001
Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children.
    Archives of ophthalmology (Chicago, Ill. : 1960), 2002, Volume: 120, Issue:2

    Topics: Adult; Arginine; Choroid Diseases; Diet, Protein-Restricted; Disease Progression; Electroretinography; Female; Fundus Oculi; Gyrate Atrophy; Humans; Male; Nuclear Family; Ornithine; Pedigree; Photography; Retinal Diseases; Visual Acuity; Visual Fields

2002
Anterior subcapsular plaque cataract in hyperornithinaemia gyrate atrophy--a case report.
    The British journal of ophthalmology, 1992, Volume: 76, Issue:12

    Topics: Adolescent; Cataract; Female; Gyrate Atrophy; Humans; Lens Capsule, Crystalline; Ornithine; Vision Disorders; Visual Acuity

1992
Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1991, Volume: 109, Issue:11

    Topics: Adult; Arginine; Child; Child, Preschool; Female; Follow-Up Studies; Fundus Oculi; Genetic Variation; Gyrate Atrophy; Humans; Infant; Longitudinal Studies; Male; Middle Aged; Ornithine; Ornithine-Oxo-Acid Transaminase; Retinal Degeneration; Treatment Outcome

1991
A far advanced case of gyrate atrophy in a 12-year-old girl.
    Journal of inherited metabolic disease, 1991, Volume: 14, Issue:3

    Topics: Arginine; Child; Diet; Electroencephalography; Electromyography; Female; Gyrate Atrophy; Humans; Myopia; Night Blindness; Ornithine

1991
Gyrate atrophy of the choroid and retina in a 5-year-old girl.
    Acta ophthalmologica, 1991, Volume: 69, Issue:6

    Topics: Child, Preschool; Electroretinography; Female; Follow-Up Studies; Fundus Oculi; Gyrate Atrophy; Humans; Ornithine; Prognosis; Visual Acuity

1991