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homocitrulline and Amino Acid Metabolism Disorders, Inborn

homocitrulline has been researched along with Amino Acid Metabolism Disorders, Inborn in 34 studies

Research

Studies (34)

Timeframe	Studies, this research(%)	All Research%
pre-1990	19 (55.88)	18.7374
1990's	9 (26.47)	18.2507
2000's	3 (8.82)	29.6817
2010's	3 (8.82)	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
Busanello, EN; Grings, M; Knebel, LA; Leipnitz, G; Lobato, VA; Moura, AP; Pettenuzzo, LF; Ritter, L; Tonin, AM; Vargas, CR; Viegas, CM; Wajner, M; Zanatta, A	1
Busanello, EN; Fernandes, CG; Leipnitz, G; Moura, AP; Seminotti, B; Tonin, AM; Viegas, CM; Wajner, M; Zanatta, A	1
Azize, NA; Ch'ng, GS; Chen, BC; Habib, A; Hsu, HT; Md Yunus, Z; Ngu, LH; Ong, WP; Pitt, J; Wong, KJ	1
Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S	1
Abu-Amero, KK; Al-Dirbashi, OY; Al-Hassnan, ZN; Patay, Z; Rahbeeni, Z; Rashed, MS	1
Gray, RG; Hill, SE; Pollitt, RJ	1
Perheentupa, J; Rajantie, J; Simell, O	1
Dyken, P; Hommes, FA; Kelloes, C; Metoki, K; Trefz, J	1
Herzfeld, A; Mandell, R; Shih, VE	1
Gordon, BA; Haust, MD	1
Gray, RG; Green, A; Hall, S; McKeown, C	1
Bonocore, G; Buonocore, G; Ciani, F; Donati, MA; Pasquini, E; Shih, VE; Zammarchi, E	1
Nagao, M; Oyanagi, K	1
Celli, M; Crifò, C; D'Eufemia, P; Finocchiaro, R; Giardini, O; Salerno, C	1
Gatfield, PD; Haust, MD; Taller, E; Wolfe, DM	1
Goto, I; Kobayashi, T; Shigeto, H; Yamada, T	1
Shimizu, H	1
Arbour, JF; Dubé, J; Flessas, J; Laberge, M; Lafleur, L; Lambert, MA; Lemay, JF; Mitchell, GA; Valle, D; Vanasse, M	1
Laframboise, R; Mandell, R; Pichette, J; Shih, VE	1
Brochu, P; Jasmin, G; Lambert, MA; Qureshi, IA; Seidman, EG; Smith, L	1
Hayakawa, C; Kato, T; Mizutani, N; Sano, M	1
Kato, T; Mizutani, N; Sano, M	1
Botschner, J; Scriver, CR; Simell, O; Smith, DW	1
Bonnefont, JP; Chadefaux, B; Kamoun, P; Rabier, D; Saudubray, JM; Shih, VE	1
Alme, A; Broch, H; Gjessing, LR; Lie, SO; Lunde, HA; Undrum, T	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
Inoue, I; Kayanuma, K; Koike, R; Miyatake, T; Nakajima, M; Saheki, T; Sakoda, K; Takeshita, K; Uono, M; Yuasa, T	1
Akiyoshi, H; Ichihara, K; Inoue, I; Ishii, S; Mito, T; Nakajima, M; Saheki, T; Takakura, H; Takashima, S; Takeshita, K	1
Fujimori, K; Koike, R; Miyatake, T; Yuasa, T	1
Gatfield, DP; Gordon, BA; Haust, MD	1
Dyken, PR; Hartlage, PL; Hommes, FA; Metoki, K; Roesel, RA	1
Clow, CL; Mackenzie, S; Scriver, CR; Simell, O	1

Reviews

2 review(s) available for homocitrulline and Amino Acid Metabolism Disorders, Inborn

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 (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

Other Studies

32 other study(ies) available for homocitrulline and Amino Acid Metabolism Disorders, Inborn

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
Chronic postnatal ornithine administration to rats provokes learning deficit in the open field task. Metabolic brain disease, 2012, Volume: 27, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Animals, Newborn; Avoidance Learning; Behavior, Animal; Citrulline; Cognition; Developmental Disabilities; Disease Models, Animal; Half-Life; Learning Disabilities; Maze Learning; Memory; Memory, Long-Term; Ornithine; Postural Balance; Rats; Rats, Wistar; Thiobarbituric Acid Reactive Substances	2012
Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo. Metabolic brain disease, 2012, Volume: 27, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Antioxidants; Brain; Catalase; Citrulline; Glutathione Peroxidase; Homeostasis; Injections, Intraperitoneal; Injections, Intraventricular; Male; Nitric Oxide; Ornithine; Oxidation-Reduction; Oxidative Stress; Protein Carbonylation; Rats; Rats, Wistar; Sulfhydryl Compounds; Thiobarbituric Acid Reactive Substances; Urease	2012
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance. European journal of pediatrics, 2013, Volume: 172, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Biomarkers; Child, Preschool; Citrulline; Fusion Regulatory Protein 1, Light Chains; Genetic Markers; Genetic Testing; Humans; Malaysia; Male; Point Mutation	2013
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. Journal of the neurological sciences, 2004, Mar-15, Volume: 218, Issue:1-2 Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arabs; Child, Preschool; Citrulline; DNA Mutational Analysis; Exons; Family Health; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Hyperammonemia; Lactic Acid; Male; Mitochondrial Diseases; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Polymerase Chain Reaction; Proteins	2004
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. Journal of the neurological sciences, 2008, Jan-15, Volume: 264, Issue:1-2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Brain; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Citrulline; DNA Mutational Analysis; Female; Food, Formulated; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Hyperammonemia; Magnetic Resonance Imaging; Male; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Pedigree; Saudi Arabia; Sodium Benzoate; Stroke	2008
Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria. Clinica chimica acta; international journal of clinical chemistry, 1982, Feb-05, Volume: 118, Issue:2-3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Aspartate Ammonia-Lyase; Cells, Cultured; Citrulline; Fibroblasts; Glutamates; Glutamic Acid; Humans; Lymphocyte Activation; Lymphocytes; Ornithine; Phytohemagglutinins; Proline	1982
Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance. The Journal of pediatrics, 1983, Volume: 102, Issue:3 Topics: Administration, Oral; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Citrulline; Female; Humans; Lysine; Male	1983
Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Fibroblasts; Genes, Recessive; Humans; Intracellular Membranes; Microscopy, Electron; Mitochondria; Ornithine; Skin	1984
Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria. Clinica chimica acta; international journal of clinical chemistry, 1982, Feb-05, Volume: 118, Issue:2-3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Citrulline; Fibroblasts; Humans; Models, Chemical; Ornithine; Proteins; Skin	1982
Ultrastructural changes in the mitochondria in disorders in ornithine metabolism. Pediatric research, 1980, Volume: 14, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Humans; Mitochondria, Liver; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease	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
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome. The Journal of pediatrics, 1997, Volume: 131, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Carnitine; Citrulline; Diet, Protein-Restricted; Humans; Infant, Newborn; Male; Ornithine	1997
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
Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity. Pediatric research, 1975, Volume: 9, Issue:5 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Biopsy; Carbamoyl-Phosphate Synthase (Ammonia); Child; Child, Preschool; Citrulline; Dietary Proteins; Female; Humans; Leukocytes; Liver; Lysine; Male; Microscopy, Electron; Mitochondria, Liver; Ornithine; Phosphotransferases	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
[The dibasic amino acid metabolic disorders]. Nihon rinsho. Japanese journal of clinical medicine, 1992, Volume: 50, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Blood Transfusion; Citrulline; Humans; Hyperargininemia; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Renal Dialysis	1992
Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients. The Journal of pediatrics, 1992, Volume: 121, Issue:5 Pt 1 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Citrulline; Eye Diseases; Female; Humans; Male; Nervous System Diseases; Neuropsychological Tests; Ornithine; Psychomotor Performance	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
Homocitrullinuria and homoargininuria in hyperargininaemia. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Homoarginine; Humans; Lysine; Male	1988
Homocitrullinuria and homoargininuria in lysinuric protein intolerance. Journal of inherited metabolic disease, 1989, Volume: 12, Issue:2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Citrulline; Female; Homoarginine; Humans; Kidney; Lysine; Male; Ornithine	1989
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
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. American journal of medical genetics, 1989, Volume: 32, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Chorionic Villi Sampling; Citrulline; Female; Humans; Ornithine; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis	1989
A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet. Journal of inherited metabolic disease, 1986, Volume: 9, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Citrulline; Dietary Proteins; Glutamine; Humans; Infant; Male; Ornithine; Pyrimidines	1986
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
Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria. Biochimica et biophysica acta, 1988, Jan-12, Volume: 964, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Biological Transport; Citrulline; Humans; Kinetics; Mitochondria, Liver; Ornithine	1988
Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Brain & development, 1988, Volume: 10, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Brain; Child; Citrulline; Endoplasmic Reticulum; Humans; Liver Glycogen; Male; Mitochondria, Liver; Ornithine; Tomography, X-Ray Computed	1988
[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
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
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