ornithine and Inborn Errors of Metabolism

ornithine has been researched along with Inborn Errors of Metabolism in 30 studies

Research

Studies (30)

Timeframe	Studies, this research(%)	All Research%
pre-1990	20 (66.67)	18.7374
1990's	3 (10.00)	18.2507
2000's	6 (20.00)	29.6817
2010's	1 (3.33)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Nguyen, T; Pitt, JJ; Tzanakos, N	1
Boenzi, S; Capozzi, P; Dionisi-Vici, C; Morini, C; Rizzo, C; Santorelli, FM	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
Chan, A; Collison, M; Greenberg, CR; Huynh, HQ; Lehotay, DC; Mhanni, AA; Seifert, B; Sokoro, A	1
Franco, A; Garcia-Perez, A; Martin-Pascual, A; Rodriguez, ML	1
Smith, I	1
Daune-Anglard, G; Grauffel, C; Knödgen, B; Sarhan, S; Seiler, N	1
Brody, LC; Mitchell, GA; Sipilä, I; Valle, D	1
Gallagher, AC; Pike, M; Standing, S	1
Bertini, E; Dionisi-Vici, C; Salvi, S; Santorelli, FM; Verardo, M	1
Hayakawa, C; Kanazawa, N; Miyamoto, T; Tsujino, S	1
Colombo, JP; Lavinha, F; Lowenthal, A; Terheggen, HG	1
Marliss, EB; McCulloch, C	1
Knopman, DS; Shih, VE; Tuchman, M	1
Chalmers, RA; Duffy, S; Harkness, RA; Jones, M; Purkiss, P	1
Leonard, JV; Michalski, A; Taylor, DS	1
Bachmann, C; Colombo, JP; Schrämmli, A	1
Alme, A; Broch, H; Gjessing, LR; Lie, SO; Lunde, H; Undrum, T	1
Boswell, M; Hoogenraad, NJ; Thaler, MM	1
Szám, I	1
Iivanainen, M; Palo, J; Savolainen, H	1
Burgess, EA; Butler, LJ; Levin, B; Oberholzer, VG; Palmer, T	1
Colombo, JP	1
Deverson, EV; Ellory, JC; Tucker, EM	1
Anakura, M; Arashima, S; Matsuda, I; Nambu, H; Takekoshi, Y	1
Carton, D; De Schrijver, F; Hooft, C; Kint, J; Van Durme, J	1
Bickel, H; Feist, D; Müller, H; Quadbeck, G	1
Greer, M; Sprinkle, T; Williams, CM	1
Bickel, H; Kekomäki, MP; Räihä, NC	1

Reviews

5 review(s) available for ornithine and Inborn Errors of Metabolism

Article	Year
[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
The eye and inherited metabolic disease: a review. Journal of the Royal Society of Medicine, 1988, Volume: 81, Issue:5 Topics: Abetalipoproteinemia; Amino Acid Metabolism, Inborn Errors; Eye Diseases; Homocystinuria; Humans; Metabolism, Inborn Errors; Ornithine; Tyrosine	1988
Inborn defects of the mitochondrial portion of the urea cycle. Annals of the New York Academy of Sciences, 1986, Volume: 488 Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Animals; Biological Transport, Active; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Metabolism, Inborn Errors; Mitochondria; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Urea	1986
[Hyperammoniemia and its treatment]. Orvosi hetilap, 1973, Oct-28, Volume: 114, Issue:43 Topics: Ammonia; Arginine; Aspartic Acid; Humans; Ketoglutaric Acids; Liver; Malates; Metabolism, Inborn Errors; Ornithine; Orotic Acid	1973
[Hereditary enzyme defects of the urea cycle]. Ergebnisse der inneren Medizin und Kinderheilkunde, 1971, Volume: 31 Topics: Adult; Ammonia; Arginase; Arginine; Child; Child, Preschool; Citrulline; Enzymes; Female; Humans; Infant; Infant, Newborn; Ligases; Lyases; Male; Metabolism, Inborn Errors; Ornithine; Ornithine Carbamoyltransferase; Phosphotransferases; Succinates; Transaminases; Urea	1971

Other Studies

25 other study(ies) available for ornithine and Inborn Errors of Metabolism

Article	Year
Newborn screening for guanidinoacetate methyl transferase deficiency. Molecular genetics and metabolism, 2014, Volume: 111, Issue:3 Topics: Arginine; Creatine; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectual Disability; Language Development Disorders; Male; Metabolism, Inborn Errors; Movement Disorders; Ornithine; Sodium Benzoate	2014
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
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
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
Contact dermatitis to nickel and early cataract in two sisters with hyperornithinemia. Contact dermatitis, 1981, Volume: 7, Issue:2 Topics: Adult; Cataract; Dermatitis, Contact; Female; Humans; Metabolism, Inborn Errors; Nickel; Ornithine	1981
The treatment of inborn errors of the urea cycle. Nature, 1981, Jun-04, Volume: 291, Issue:5814 Topics: Ammonia; Arginine; Humans; Metabolism, Inborn Errors; Ornithine; Urea	1981
Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase. Journal of inherited metabolic disease, 1994, Volume: 17, Issue:6 Topics: Amino Acids; Ammonia; Animals; Behavior, Animal; Female; Male; Metabolism, Inborn Errors; Mice; Mice, Mutant Strains; Mutation; Ornithine; Ornithine Carbamoyltransferase; Ornithine-Oxo-Acid Transaminase; Orotic Acid	1994
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
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
Familial hyperargininaemia. Archives of disease in childhood, 1975, Volume: 50, Issue:1 Topics: Amino Acids; Ammonia; Arginine; Athetosis; Child, Preschool; Chromatography; Cystinuria; Dietary Proteins; Erythrocytes; Female; Guanidines; Humans; Hyperargininemia; Infant; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Muscle Spasticity; Ornithine; Umbilical Cord; Urea	1975
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
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
The effects of fetal energy depletion on amniotic fluid concentrations of amino acids, organic acids and related metabolites. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:1 Topics: Adenosine Triphosphate; Amino Acids; Amniotic Fluid; Arginine; Aspartic Acid; Asphyxia Neonatorum; Diagnosis, Differential; Female; Fetus; Humans; Hypoxanthine; Hypoxanthines; Infant, Newborn; Metabolism, Inborn Errors; Ornithine; Pregnancy; Uridine	1988
[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
Reye's syndrome due to a novel protein-tolerant variant of ornithine-transcarbamylase deficiency. Lancet (London, England), 1974, Aug-24, Volume: 2, Issue:7878 Topics: Ammonia; Brain Diseases; Child; Fatty Liver; Female; Hepatic Encephalopathy; Humans; Kinetics; Liver; Metabolism, Inborn Errors; Ornithine; Ornithine Carbamoyltransferase; Prothrombin Time; Reye Syndrome; Urea	1974
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study. Journal of mental deficiency research, 1973, Volume: 17, Issue:2 Topics: Adolescent; Adult; Alanine; Amino Acids; Arginine; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Cystine; Epilepsy; Female; Glutamates; Glutamine; Humans; Intellectual Disability; Intelligence Tests; Isoleucine; Leucine; Lysine; Male; Metabolism, Inborn Errors; Methionine; Middle Aged; Ornithine; Phenylalanine; Pneumoencephalography; Threonine; Valine	1973
Editorial: A new inborn error of metabolism. The British journal of ophthalmology, 1974, Volume: 58, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Eye Diseases; Eye Manifestations; Humans; Metabolism, Inborn Errors; Ornithine; Sex Chromosomes	1974
Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families. Archives of disease in childhood, 1974, Volume: 49, Issue:6 Topics: Alanine; Ammonia; Arginine; Child, Preschool; Citrulline; Female; Genes, Dominant; Genetic Linkage; Glutamates; Glutamine; Glycine; Humans; Leucine; Liver; Lysine; Male; Metabolism, Inborn Errors; Ornithine; Ornithine Carbamoyltransferase; Sex Chromosomes	1974
The identification of ornithine and lysine at high concentrations in the red cells of sheep with an inherited deficiency of glutathione. Biochimica et biophysica acta, 1972, Oct-25, Volume: 279, Issue:3 Topics: Amino Acids; Animals; Erythrocytes; Glutathione; Lysine; Metabolism, Inborn Errors; Ornithine; Oxidation-Reduction; Potassium; Sheep; Sodium; Species Specificity	1972
Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase. Pediatrics, 1971, Volume: 48, Issue:4 Topics: Amino Acids; Ammonia; Animals; Autopsy; Clinical Enzyme Tests; Culture Techniques; Female; Humans; Infant; Liver; Metabolism, Inborn Errors; Mutation; Ornithine; Ornithine Carbamoyltransferase; Orotic Acid; Phosphotransferases; Rats; Threonine; Urea	1971
Argininosuccinic aciduria. Neonatal variant with rapid fatal course. Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:5 Topics: Arginase; Arginine; Blood Urea Nitrogen; Brain Chemistry; Chromatography, Paper; Citrulline; Female; Humans; Infant, Newborn; Lyases; Metabolism, Inborn Errors; Ornithine; Succinates; Urea	1969
[Ornithinemia, additional disorder of amino acid metabolism with brain damage]. Deutsche medizinische Wochenschrift (1946), 1968, Nov-22, Volume: 93, Issue:47 Topics: Amino Acids; Brain Damage, Chronic; Child; Child, Preschool; Electroencephalography; Female; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Methods; Nitrogen; Ornithine; Transaminases	1968
Detection of argininosuccinic aciduria by gas chromatography. Clinica chimica acta; international journal of clinical chemistry, 1969, Volume: 23, Issue:1 Topics: Arginine; Aspartic Acid; Ataxia; Chemical Precipitation; Chromatography, Gas; Epilepsy; Esters; Humans; Hydrogen-Ion Concentration; Intellectual Disability; Liver Diseases; Metabolism, Inborn Errors; Methods; Ornithine; Spectrum Analysis; Succinates	1969
Ornithine-ketoacid aminotransferase in human liver with reference to patients with hyperornithinaemia and familial protein intolerance. Clinica chimica acta; international journal of clinical chemistry, 1969, Volume: 23, Issue:1 Topics: Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Fetus; Humans; Infant; Infant, Newborn; Keto Acids; Kinetics; Liver; Metabolism, Inborn Errors; Middle Aged; Ornithine; Ornithine Carbamoyltransferase; Pregnancy; Proteins; Transaminases	1969