ornithine and Syndrome

ornithine has been researched along with Syndrome in 61 studies

Research

Studies (61)

Timeframe	Studies, this research(%)	All Research%
pre-1990	28 (45.90)	18.7374
1990's	12 (19.67)	18.2507
2000's	21 (34.43)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Debray, FG; Drouin, R; Dubé, J; Fenyves, D; Laframboise, R; Lambert, M; Lemieux, B; Maranda, B; Mitchell, GA; Soucy, JF	1
Aldamiz-Echevarría, L; Baumgartner, MR; Besley, G; Chien, YH; de Baulny, HO; Deodato, F; Dionisi-Vici, C; Fiermonte, G; Hernandez, JM; Loguercio, C; Martinez-Hernandez, E; Melone, MA; Nassogne, MC; Palmieri, F; Paradies, E; Parenti, G; Pierri, CL; Rutledge, SL; Santorelli, FM; Scarano, G; Schiff, M; Tessa, A; Vilaseca, MA; Walter, J	1
Camacho, JA; Rioseco-Camacho, N	1
Boenzi, S; Capozzi, P; Dionisi-Vici, C; Morini, C; Rizzo, C; Santorelli, FM	1
Amaral, AU; Dutra-Filho, CS; Fernandes, CG; Leipnitz, G; Seminotti, B; Viegas, CM; Wajner, M; Zanatta, A	1
Andrade, D; Camacho, JA; Kong, J; Porter, J; Rioseco-Camacho, N	1
Courtecuisse, V; Dommergues, JP; Girard, F; Limal, JM	1
Andria, G; Carbone, MT; Correra, A; Della Casa, R; Dionisi-Vici, C; Fecarotta, S; Parenti, G; Riva, S; Santorelli, FM; Torre, G; Vajro, P; Zuppaldi, A	1
Andrade, D; Camacho, JA; Cederbaum, SD; Derbeneva, O; Mardach, R; Qu, Y; Rioseco-Camacho, N; Ruiz-Pesini, E; Zaldivar, F	1
Al-Dirbashi, OY; Al-Hassnan, ZN; Rashed, MS	1
Chan, A; Collison, M; Greenberg, CR; Huynh, HQ; Lehotay, DC; Mhanni, AA; Seifert, B; Sokoro, A	1
Blanke, CD; Chan, JS; Harding, CO	1
Itakura, Y; Nakao, T; Oyanagi, K; Sakamoto, S; Sogawa, H; Tsuchiyama, A; Wagatsuma, K; Yachi, A	1
Hommes, FA; Metoki, K	1
Blankenship, PR; Coryell, ME; Hommes, FA; Roesel, RA	1
Carter, AL; Eller, AG; Evans, BA; Hommes, FA	1
Heckenlively, J	1
Gray, RG; Green, A; Hall, S; McKeown, C	1
Dewar, RA; Gatfield, DP; Gordon, BA; Haust, MD	1
Dallaire, L; Feoli-Fonseca, JC; Lambert, M; Melançon, SB; Millington, DS; Mitchell, G; Qureshi, IA	1
Haust, MD	1
Nagao, M; Oyanagi, K	1
Almashanu, S; Biery, B; Camacho, JA; Casey, R; Goodman, BK; Hu, CA; Lambert, M; Mitchell, GA; Obie, C; Steel, G; Valle, D	1
Celli, M; Crifò, C; D'Eufemia, P; Finocchiaro, R; Giardini, O; Salerno, C	1
Eto, Y; Kanazawa, N; Kira, J; Ohashi, T; Saito, T; Tsujino, S; Yamada, T	1
Inoue, T; Inoue, Y; Kanazawa, N; Kato, S; Kawakami, M; Kuhara, T; Miyamoto, T; Takeshita, K; Tsujino, S	1
Gallagher, AC; Pike, M; Standing, S	1
Ohura, T; Sakamoto, O	1
Bertini, E; Dionisi-Vici, C; Salvi, S; Santorelli, FM; Verardo, M	1
Kanazawa, N; Miyamoto, T; Tsujino, S	2
Dehne, MG; Fuchs, M; Hempelmann, G; Mühling, J; Sablotzki, A; Spatz, J; Weiss, S	1
Hayakawa, C; Kanazawa, N; Miyamoto, T; Tsujino, S	1
Kakinuma, H	1
Arshinoff, SA; Gordon, BA; Marliss, EB; Matuk, Y; McCulloch, JC; Phillips, MJ	1
Berson, EL; Mandell, R; Schmidt, SY; Shih, VE	1
Prisco, F; Santinelli, R; Stoppoloni, G; Tolone, C	1
Arshinoff, SA; Marliss, EB; McCulloch, JC; Parker, JA	1
Hilsdorf, C; Jaeger, W; Lutz, P; von Kettler, J	1
Shih, VE	1
Amacher, AL; Bolton, RJ; Gatfield, PD	1
Marliss, EB; McCulloch, C	1
Beaudry, MA; Collu, R; Dallairf, L; Ducharme, JR; Leboeuf, G; Letarte, J; Melancon, SB	1
Goto, I; Kobayashi, T; Shigeto, H; Yamada, T	1
Laframboise, R; Mandell, R; Pichette, J; Shih, VE	1
Brochu, P; Jasmin, G; Lambert, MA; Qureshi, IA; Seidman, EG; Smith, L	1
Knopman, DS; Shih, VE; Tuchman, M	1
Eto, Y; Maekawa, K; Shimizu, H	1
Botschner, J; Scriver, CR; Simell, O; Smith, DW	1
Alvarez, L; Coude, FX; Fabregas, I; Fernandez Alvarez, E; Grimber, G; Pineda, M; Ribes, A; Rodes, M	1
Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G	1
Hashiba, M; Noguchi, R; Shimoji, K; Tomita, Y	1
Gordon, BA; Haust, MD	1
Fujimori, K; Koike, R; Miyatake, T; Yuasa, T	1
Gatfield, DP; Gordon, BA; Haust, MD	1
Biscoping, J; Hempelmann, G; Michaelis, G	1
Dyken, PR; Hartlage, PL; Hommes, FA; Metoki, K; Roesel, RA	1
Härkönen, M; Karli, P; Rehunen, S	1
Alme, A; Broch, H; Gjessing, LR; Lie, SO; Lunde, H; Undrum, T	1
Clow, CL; Mackenzie, S; Scriver, CR; Simell, O	1
Simell, O; Takki, K	1

Reviews

6 review(s) available for ornithine and Syndrome

Article	Year
[Hyperornithinemia-hyperammonemia-homocitrullinuria (H.H.H.) syndrome]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Diagnosis, Differential; Humans; Infant, Newborn; Ornithine; Ornithine-Oxo-Acid Transaminase; Syndrome	1998
[Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome]. Ryoikibetsu shokogun shirizu, 2001, Issue:33 Topics: Citrulline; Humans; Hyperammonemia; Ornithine; Syndrome	2001
[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)]. Nihon rinsho. Japanese journal of clinical medicine, 2001, Volume: 59, Issue:11 Topics: Amino Acid Transport Systems, Basic; Ammonia; Animals; Base Sequence; Carrier Proteins; Citrulline; Humans; Membrane Transport Proteins; Mitochondria; Molecular Sequence Data; Mutation; Nervous System Diseases; Ornithine; Syndrome	2001
[Structure-function relationships of mitochondrial transporters]. Nihon rinsho. Japanese journal of clinical medicine, 2002, Volume: 60 Suppl 4 Topics: Animals; Citrulline; Humans; Hyperammonemia; Intracellular Membranes; Membrane Transport Proteins; Mitochondria; Mitochondrial ADP, ATP Translocases; Mutation; Ornithine; Phosphate Transport Proteins; Syndrome	2002
[Mitochondrial ornithine transporter deficiency]. Nihon rinsho. Japanese journal of clinical medicine, 2002, Volume: 60 Suppl 4 Topics: Amino Acid Transport Systems, Basic; Carrier Proteins; Citrulline; Diagnosis, Differential; Humans; Hyperammonemia; Membrane Transport Proteins; Mitochondria; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Prognosis; Proteins; Syndrome	2002
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy. Journal of pediatric gastroenterology and nutrition, 1992, Volume: 15, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Blood Coagulation Disorders; Child, Preschool; Citrulline; Female; Humans; Liver Diseases; Liver Function Tests; Ornithine; Syndrome	1992

Trials

1 trial(s) available for ornithine and Syndrome

Article	Year
Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal. Biochemical and molecular medicine, 1996, Volume: 57, Issue:1 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Carnitine; Child; Child, Preschool; Female; Humans; Male; Nitrogen; Ornithine; Retrospective Studies; Syndrome; Urea	1996

Article

Year

Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal.

Biochemical and molecular medicine, 1996, Volume: 57, Issue:1

Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Carnitine; Child; Child, Preschool; Female; Humans; Male; Nitrogen; Ornithine; Retrospective Studies; Syndrome; Urea

1996

Other Studies

54 other study(ies) available for ornithine and Syndrome

Article	Year
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15. Journal of medical genetics, 2008, Volume: 45, Issue:11 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Child; Child, Preschool; Citrulline; Founder Effect; Homozygote; Humans; Hyperammonemia; Infant; Mutation; Ornithine; Phenotype; Syndrome	2008
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. Human mutation, 2009, Volume: 30, Issue:5 Topics: Adult; Amino Acid Transport Systems, Basic; Biological Transport; Child; Child, Preschool; Citrulline; Escherichia coli; Female; Humans; Hyperammonemia; Infant; Infant, Newborn; Male; Middle Aged; Mitochondrial Membrane Transport Proteins; Mutant Proteins; Mutation; Ornithine; Protein Structure, Secondary; Syndrome	2009
The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatric research, 2009, Volume: 66, Issue:1 Topics: Amino Acid Transport Systems, Basic; Animals; Astrocytes; Carnitine Acyltransferases; Central Nervous System; Citrullinemia; DNA Primers; Fibroblasts; Fluorescent Antibody Technique, Indirect; Humans; Hyperammonemia; Mice; Mitochondrial Proteins; Ornithine; Reverse Transcriptase Polymerase Chain Reaction; Syndrome	2009
Retinal degeneration. Ophthalmology, 2009, Volume: 116, Issue:8 Topics: Adult; Amino Acid Transport Systems, Basic; Cataract; Citrulline; Consanguinity; Creatine; Diet, Protein-Restricted; Female; Humans; Hyperammonemia; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Ornithine; Retinal Degeneration; Syndrome; Vision Disorders	2009
Evidence that the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome induce oxidative stress in brain of young rats. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2009, Volume: 27, Issue:7 Topics: Animals; Antioxidants; Brain; Citrulline; Glutathione; Humans; Hyperammonemia; Lipid Peroxidation; Male; Nitric Oxide; Ornithine; Oxidation-Reduction; Oxidative Stress; Rats; Rats, Wistar; Syndrome; Thiobarbituric Acid Reactive Substances	2009
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. Molecular genetics and metabolism, 2003, Volume: 79, Issue:4 Topics: Amino Acid Sequence; Amino Acid Transport Systems, Basic; Cell Line; Citrulline; Cloning, Molecular; Fibroblasts; Gene Frequency; Humans; Hyperammonemia; Membrane Transport Proteins; Mitochondrial Membrane Transport Proteins; Molecular Sequence Data; Ornithine; Polymorphism, Genetic; Proteins; Syndrome	2003
[Growth in height, bone and endocrine abnormalities in hypoplasia of the intrahepatic bile ducts. Eleven cases]. Annales de pediatrie, 1976, Volume: 23, Issue:8-9 Topics: Abnormalities, Multiple; Adolescent; Adult; Arginine; Bile Ducts, Intrahepatic; Body Height; Bone and Bones; Cardiovascular Abnormalities; Child; Child, Preschool; Cholestasis; Endocrine System; Female; Fibrosis; Follow-Up Studies; Growth Disorders; Growth Hormone; Humans; Intellectual Disability; Male; Ornithine; Osteoporosis; Syndrome; Testis	1976
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1 Topics: Alanine Transaminase; Amino Acid Transport Systems, Basic; Arginine; Aspartate Aminotransferases; Child, Preschool; Citrulline; Diet, Protein-Restricted; Hepatitis; Humans; Hyperammonemia; Liver; Male; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Ornithine; Proteins; Syndrome	2006
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatric research, 2006, Volume: 60, Issue:4 Topics: Adolescent; Adult; Amino Acid Transport Systems, Basic; Child; Citrullinemia; DNA, Mitochondrial; Female; Haplotypes; Humans; Hyperammonemia; Male; Metabolic Diseases; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Pedigree; Phenotype; Polymorphism, Genetic; Proteins; RNA, Messenger; Syndrome	2006
Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry. Analytical and bioanalytical chemistry, 2006, Volume: 386, Issue:7-8 Topics: Ammonia; Chromatography, Liquid; Citrulline; Creatinine; Humans; Mass Spectrometry; Ornithine; Syndrome	2006
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure. Journal of pediatric gastroenterology and nutrition, 2008, Volume: 46, Issue:3 Topics: Amino Acid Transport Systems, Basic; Citrulline; Diet, Protein-Restricted; Female; Humans; Hyperammonemia; Infant; Liver Failure, Acute; Liver Transplantation; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Ornithine; Point Mutation; Syndrome	2008
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency. Southern medical journal, 2008, Volume: 101, Issue:5 Topics: Adult; Arginine; Carcinoma, Hepatocellular; Citrulline; Female; Glutamine; Hepatic Encephalopathy; Humans; Hyperammonemia; Liver Neoplasms; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Polymorphism, Single-Stranded Conformational; Syndrome	2008
The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria. Journal of inherited metabolic disease, 1983, Volume: 6, Issue:3 Topics: Ammonia; Citrulline; Fibroblasts; Humans; Liver; Male; Middle Aged; Mitochondria, Liver; Ornithine; Syndrome	1983
The pH of mitochondria of fibroblasts from a hyperornithinaemia, hyperammonaemia, homocitrullinuria-syndrome patient. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:1 Topics: Acid-Base Equilibrium; Ammonia; Citrulline; Cytosol; Fibroblasts; Humans; Hydrogen-Ion Concentration; Mitochondria; Ornithine; Syndrome	1984
Gamma-glutamylornithine excretion in patients with hyperornithinemia. Clinica chimica acta; international journal of clinical chemistry, 1984, Jul-16, Volume: 140, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Atrophy; Choroid; Chromatography; Citrulline; Dipeptides; Humans; Ornithine; Retina; Retinal Diseases; Syndrome; Uveal Diseases	1984
Reconstitution of ornithine transport in liposomes with Lubrol extracts of mitochondria. FEBS letters, 1984, May-07, Volume: 170, Issue:1 Topics: Amino Acid Transport Systems, Basic; Ammonia; Animals; Biological Transport, Active; Carrier Proteins; Cattle; Citrulline; Kinetics; Liposomes; Membrane Transport Proteins; Mitochondria, Liver; Ornithine; Polyethylene Glycols; Solubility; Syndrome	1984
Possible syndrome of high myopia with retinal degeneration, cataract, manic depression, and elevated plasma amino acids. Metabolic and pediatric ophthalmology, 1980, Volume: 4, Issue:3 Topics: Aged; Amino Acids; Bipolar Disorder; Cataract; Female; Humans; Lysine; Male; Middle Aged; Myopia; Ornithine; Ornithine-Oxo-Acid Transaminase; Retinal Degeneration; Serine; Syndrome	1980
Prenatal exclusion of the HHH syndrome. Prenatal diagnosis, 1995, Volume: 15, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Amniotic Fluid; Cells, Cultured; Citrulline; Female; Humans; Ornithine; Pregnancy; Prenatal Diagnosis; Syndrome	1995
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients. Pathology, research and practice, 1996, Volume: 192, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Child; Citrulline; Female; Fibroblasts; Humans; Male; Mitochondria; Ornithine; Skin; Syndrome	1996
Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome. Pathology, research and practice, 1995, Volume: 191, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Cells, Cultured; Cilia; Citrulline; Endoplasmic Reticulum, Rough; Fibroblasts; Humans; Microscopy, Electron; Mitochondria; Ornithine; Skin; Syndrome; Urea	1995
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nature genetics, 1999, Volume: 22, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Amino Acid Transport Systems, Basic; Ammonia; Animals; Canada; Carrier Proteins; Chromosome Mapping; Chromosomes, Human, Pair 13; Citrulline; Female; France; Genetic Carrier Screening; Humans; Karyotyping; Male; Membrane Transport Proteins; Mice; Mitochondria; Mitochondrial Membrane Transport Proteins; Molecular Sequence Data; Neurospora crassa; Ornithine; Point Mutation; Saccharomyces cerevisiae; Sequence Alignment; Sequence Deletion; Sequence Homology, Amino Acid; Skin; Syndrome; Transfection	1999
Determination of urinary orotic acid and uracil by capillary zone electrophoresis. Journal of chromatography. B, Biomedical sciences and applications, 1999, Oct-29, Volume: 734, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Borates; Buffers; Citrulline; Dietary Proteins; Electrophoresis, Capillary; Humans; Hydrogen-Ion Concentration; Infant; Male; Ornithine; Orotic Acid; Syndrome; Uracil	1999
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Annals of neurology, 2000, Volume: 47, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Ammonia; Asian People; Biological Transport; Carrier Proteins; Citrulline; DNA Mutational Analysis; Exons; Humans; Japan; Mitochondria; Molecular Sequence Data; Mutation; Ornithine; Reverse Transcriptase Polymerase Chain Reaction; Syndrome	2000
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. Journal of human genetics, 2001, Volume: 46, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Carrier Proteins; Child; Codon, Nonsense; DNA Mutational Analysis; Female; Homozygote; Humans; Japan; Male; Membrane Transport Proteins; Middle Aged; Mitochondria; Ornithine; Point Mutation; Syndrome	2001
HHH syndrome associated with callosal agenesis and disordered neuronal migration. Developmental medicine and child neurology, 2001, Volume: 43, Issue:6 Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Bronchopulmonary Sequestration; Citrulline; Consanguinity; Female; Humans; Hyperammonemia; Infant; Metabolism, Inborn Errors; Ornithine; Phenotype; Syndrome	2001
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Human mutation, 2001, Volume: 18, Issue:5 Topics: Age of Onset; Alleles; Amino Acid Transport Systems, Basic; Base Sequence; Citrulline; DNA Mutational Analysis; Exons; Female; Fibroblasts; Humans; Hyperammonemia; Infant, Newborn; Italy; Male; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Pedigree; Polymorphism, Restriction Fragment Length; Proteins; Reverse Transcriptase Polymerase Chain Reaction; Syndrome	2001
Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia. Amino acids, 2001, Volume: 21, Issue:3 Topics: Adult; Amino Acids; Ammonia; Anesthesia; Blood Coagulation Tests; Citrulline; Clinical Chemistry Tests; Female; Humans; Monitoring, Physiologic; Ornithine; Syndrome	2001
A novel mutation, P126R, in a Japanese patient with HHH syndrome. Pediatric neurology, 2002, Volume: 26, Issue:1 Topics: Adolescent; Ammonia; Base Sequence; Brain Diseases; Carrier Proteins; Cysts; DNA Primers; Exons; Gene Expression; Humans; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Methionine; Mitochondrial Diseases; Molecular Sequence Data; Ornithine; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Septum Pellucidum; Syndrome; Tomography, X-Ray Computed	2002
Amino-acid metabolism and liver ultrastructure in hyperornithinemia with gyrate atrophy of the choroid and retina. Metabolism: clinical and experimental, 1979, Volume: 28, Issue:10 Topics: Adult; Amino Acids; Child; Choroid; Humans; Hypertrophy; Liver; Male; Ornithine; Retinal Degeneration; Syndrome; Uveal Diseases	1979
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. American journal of human genetics, 1978, Volume: 30, Issue:2 Topics: Adolescent; Adult; Atrophy; Cells, Cultured; Child; Choroid; Female; Humans; Male; Ornithine; Ornithine-Oxo-Acid Transaminase; Pyridoxal Phosphate; Retinal Degeneration; Skin; Syndrome; Transaminases	1978
Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case. Helvetica paediatrica acta, 1978, Volume: 33, Issue:4-5 Topics: Atrophy; Child, Preschool; Dietary Proteins; Female; Humans; Intellectual Disability; Language Development; Ornithine; Ornithine-Oxo-Acid Transaminase; Retinal Diseases; Speech Disorders; Syndrome; Transaminases; Uveal Diseases	1978
Hyperornithinemia and gyrate atrophy of the choroid and retina. Ophthalmology, 1978, Volume: 85, Issue:9 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Atrophy; Child; Choroid; Female; Glutamates; Humans; Male; Middle Aged; Mitochondria, Liver; Ornithine; Ornithine-Oxo-Acid Transaminase; Pedigree; Retinal Degeneration; Syndrome; Uveal Diseases	1978
[Are there various forms of gyrate atrophy of the choroid and retina? (choroidal and retinal gyrate atrophy with and without ornithinemia)]. Bericht uber die Zusammenkunft. Deutsche Ophthalmologische Gesellschaft, 1978, Issue:75 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Atrophy; Choroid; Humans; Male; Ornithine; Pedigree; Retina; Retinal Diseases; Syndrome	1978
Congenital hyperammonemic syndromes. Clinics in perinatology, 1976, Volume: 3, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Diagnosis, Differential; Humans; Hyperargininemia; Infant, Newborn; Infant, Newborn, Diseases; Lysine; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Syndrome; Urea	1976
Hyperammonemia (ornithinemia) presenting as a unilateral cerebral mass lesion. Surgical neurology, 1976, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Astrocytes; Brain Diseases; Brain Neoplasms; Carbamoyl-Phosphate Synthase (Ammonia); Cerebral Cortex; Child, Preschool; Diagnosis, Differential; Functional Laterality; Glioma; Humans; Male; Ornithine; Syndrome	1976
Gyrate atrophy of the choroid and retina with hyperornithinemia. American journal of ophthalmology, 1975, Volume: 80, Issue:6 Topics: Adult; Choroid; Humans; Male; Metabolism, Inborn Errors; Ornithine; Pedigree; Retinal Degeneration; Syndrome	1975
[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)]. Diabete & metabolisme, 1975, Volume: 1 Topics: Alanine; Amino Acids; Ammonia; Child, Preschool; Dietary Proteins; Erythrocytes; Growth Disorders; Humans; Intellectual Disability; Leukocytes; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine-5'-Phosphate Decarboxylase; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Seizures; Syndrome; Urea	1975
[A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs]. Rinsho shinkeigaku = Clinical neurology, 1992, Volume: 32, Issue:7 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Electromyography; Humans; Leg; Male; Muscular Atrophy; Ornithine; Paraparesis, Tropical Spastic; Spinal Cord; Syndrome	1992
Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis. Prenatal diagnosis, 1992, Volume: 12, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Citrulline; Female; Gestational Age; Hepatitis B Surface Antigens; Humans; Hyaline Membrane Disease; Infant, Newborn; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Ornithine-Oxo-Acid Transaminase; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Syndrome	1992
Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Archives of neurology, 1990, Volume: 47, Issue:10 Topics: Adult; Ammonia; Citrulline; Female; Fibroblasts; Glutamine; Humans; Leucine; Male; Metabolism, Inborn Errors; Ornithine; Phenylbutyrates; Recurrence; Syndrome; Urea	1990
Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria). Brain & development, 1990, Volume: 12, Issue:5 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Biogenic Polyamines; Citrulline; Diet; Humans; Male; Ornithine; Syndrome	1990
Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts. Journal of inherited metabolic disease, 1989, Volume: 12, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Fibroblasts; Heterozygote; Homozygote; Humans; Lysine; Ornithine; Ornithine-Oxo-Acid Transaminase; Oxidation-Reduction; Proteins; Syndrome	1989
A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria. Journal of inherited metabolic disease, 1987, Volume: 10, Issue:1 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Citrulline; Female; Humans; Male; Ornithine; Syndrome	1987
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. Pediatric research, 1987, Volume: 22, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Citrulline; Creatine; Female; Humans; Lysine; Male; Ornithine; Orotic Acid; Syndrome	1987
[Anesthesia for a patient with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome]. Masui. The Japanese journal of anesthesiology, 1988, Volume: 37, Issue:1 Topics: Adult; Ammonia; Anesthesia; Citrulline; Humans; Male; Ornithine; Syndrome	1988
Possible pathogenetic mechanism in hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Birth defects original article series, 1987, Volume: 23, Issue:1 Topics: Ammonia; Citrulline; Growth Disorders; Humans; Intellectual Disability; Liver; Lymphocytes; Mitochondria; Ornithine; Syndrome	1987
[Hyperornithinemia, hyperammonemia and homocitrullinuria syndrome in a family]. Rinsho shinkeigaku = Clinical neurology, 1987, Volume: 27, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Electroencephalography; Humans; Male; Mitochondria; Ornithine; Syndrome	1987
The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements. Clinical and investigative medicine. Medecine clinique et experimentale, 1987, Volume: 10, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Citrulline; Dietary Proteins; Fibroblasts; Humans; In Vitro Techniques; Male; Mitochondria; Ornithine; Oxidation-Reduction; Syndrome	1987
[H-H-H syndrome: a rare disease also relevant in anesthesiology]. Anasthesie, Intensivtherapie, Notfallmedizin, 1986, Volume: 21, Issue:6 Topics: Adolescent; Ammonia; Anesthesia, General; Citrulline; Femoral Fractures; Fracture Fixation, Internal; Humans; Male; Ornithine; Postoperative Complications; Syndrome; Wound Healing	1986
Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria). Neuropediatrics, 1986, Volume: 17, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Biological Transport; Child, Preschool; Citrulline; Fibroblasts; Follow-Up Studies; Humans; Kinetics; Male; Ornithine; Psychomotor Disorders; Seizures; Syndrome	1986
High-energy phosphate compounds in slow-twitch and fast-twitch muscle fibres. Changes during exercise in some neuromuscular diseases. Journal of the neurological sciences, 1985, Volume: 67, Issue:3 Topics: Adenosine Triphosphate; Adolescent; Adult; Female; Humans; Male; Middle Aged; Muscles; Myotonia Congenita; Myotonic Dystrophy; Neuromuscular Diseases; Oculomotor Muscles; Organ Specificity; Ornithine; Phosphocreatine; Physical Exertion; Syndrome	1985
[Shih syndrome. A biochemical deviation in ornithine metabolism leading to mental retardation]. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1985, Aug-10, Volume: 105, Issue:22 Topics: Amino Acids; Dietary Proteins; Humans; Infant; Intellectual Disability; Male; Metabolism, Inborn Errors; Ornithine; Syndrome	1985
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Pediatric research, 1985, Volume: 19, Issue:12 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child; Citrulline; Cytoplasm; Humans; Male; Ornithine; Orotic Acid; Syndrome	1985
Raised plasma-ornithine and gyrate atrophy of the choroid and retina. Lancet (London, England), 1973, May-12, Volume: 1, Issue:7811 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Aqueous Humor; Atrophy; Child; Choroid; Electroretinography; Eye Diseases; Female; Fundus Oculi; Humans; Male; Middle Aged; Ornithine; Retina; Retinal Degeneration; Syndrome; Transaminases	1973