citrulline and Inborn Errors of Metabolism

citrulline has been researched along with Inborn Errors of Metabolism in 41 studies

Research

Studies (41)

Timeframe	Studies, this research(%)	All Research%
pre-1990	22 (53.66)	18.7374
1990's	11 (26.83)	18.2507
2000's	8 (19.51)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Boenzi, S; Capozzi, P; Dionisi-Vici, C; Morini, C; Rizzo, C; Santorelli, FM	1
Begum, L; Gao, HZ; Iijima, M; Jalil, MA; Kobayashi, K; Li, MX; Nishi, I; Saheki, T; Yamaguchi, N; Yasuda, T	1
Bachmann, C	2
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
Dimmock, D; Iijima, M; Kobayashi, K; Lee, B; Saheki, T; Scaglia, F; Tabata, A; Wong, LJ	1
Chan, A; Collison, M; Greenberg, CR; Huynh, HQ; Lehotay, DC; Mhanni, AA; Seifert, B; Sokoro, A	1
Alberti, KG; Bartlett, K; Dale, G; Ghneim, HK; Stirk, JH	1
Bachmann, C; Colombo, JP	1
Dennis, JA; Healy, PJ	1
Burns, JL; Magura, CE; Robinson, JL; Shanks, RD	1
Parsons, HG; Pinto, A; Scott, RB; Zamora, SA	1
Montejo, M; Ruiz, JI; Sanjurjo, P	1
Chrétien, D; Cormier-Daire, V; de Lonlay, P; Munnich, A; Parfait, B; Rabier, D; Rötig, A; Rustin, P; Saudubray, JM; von Kleist-Retzow, JC	1
Gallagher, AC; Pike, M; Standing, S	1
Bertini, E; Dionisi-Vici, C; Salvi, S; Santorelli, FM; Verardo, M	1
Batshaw, M; Brusilow, SW; Valle, DL	1
Stern, J	1
Burns, SP; Iles, RA; Leonard, JV; Woolf, DA	1
Bordugo, A; Burlina, AB; Dionisi-Vici, C; Ferrari, V; Tuchman, M; Zacchello, F	1
Chung, HJ; Clancy, RR	1
Chadefaux, B; Kamoun, PP	1
Knopman, DS; Shih, VE; Tuchman, M	1
Brusilow, SW; Elliott, GR; Johnston, K; Rubenstein, JL	1
Clemens, PC; Plettner, C	1
Batshaw, ML	1
Kohn, G; Mellman, WJ	1
Bloom, A; Spector, E; Streeter, S	1
Hsia, YE	1
Goodman, SI; Hill, HZ	1
Hamada, T; Matsumura, T; Yahata, M	1
Bachmann, C; Mihatsch, MJ; Ohnacker, H; Riede, UN; Wick, H	1
Burgess, EA; Butler, LJ; Levin, B; Oberholzer, VG; Palmer, T	1
Danks, DM	1
Harris, H	1
Colombo, JP	1
O'Reilly, S	1
Shih, VE	1
Higgins, JV; Kohrman, AF; Scott-Emuakpor, A	1
Carton, D; De Schrijver, F; Hooft, C; Kint, J; Van Durme, J	1
Berger, R; Broyer, M	1

Reviews

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

Article	Year
Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency. Metabolic brain disease, 2002, Volume: 17, Issue:4 Topics: Calcium-Binding Proteins; Cholestasis, Intrahepatic; Citrulline; Humans; Infant, Newborn; Infant, Newborn, Diseases; Membrane Transport Proteins; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Mutation; Organic Anion Transporters	2002
Inherited enzyme deficiencies in livestock. The Veterinary clinics of North America. Food animal practice, 1993, Volume: 9, Issue:1 Topics: Animals; Animals, Domestic; Argininosuccinate Synthase; Cattle; Cattle Diseases; Citrulline; Enzymes; Factor XI Deficiency; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Multienzyme Complexes; Orotate Phosphoribosyltransferase; Orotidine-5'-Phosphate Decarboxylase; Porphyrias	1993
Inherited hyperammonemic syndromes. Gastroenterology, 1974, Volume: 67, Issue:2 Topics: Acidosis; Amino Acids; Ammonia; Animals; Arginine; Brain; Brain Diseases; Chemical and Drug Induced Liver Injury; Citrulline; Dementia; Homeostasis; Humans; Infant, Newborn; Liver; Lysine; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Phosphotransferases; Succinates; Syndrome; Urea; Urease	1974
Molecular basis of hereditary disease. British medical journal, 1968, Apr-20, Volume: 2, Issue:5598 Topics: Acid Phosphatase; Amino Acids; Citrulline; DNA; Erythrocytes; Genetic Diseases, Inborn; Glucosephosphate Dehydrogenase; Hemoglobins; Humans; Infant, Newborn; Metabolism, Inborn Errors	1968
[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

36 other study(ies) available for citrulline and Inborn Errors of Metabolism

Article	Year
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
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening. European journal of pediatrics, 2003, Volume: 162 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Argininosuccinic Acid; Child; Citrulline; Diet; False Positive Reactions; Humans; Hyperammonemia; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Neonatal Screening; Retrospective Studies; Treatment Outcome; Urea	2003
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
Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics, 2007, Volume: 119, Issue:3 Topics: Calcium-Binding Proteins; Citrulline; Diet, Carbohydrate-Restricted; Dietary Proteins; Failure to Thrive; Female; Hemorrhage; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Organic Anion Transporters; Treatment Outcome	2007
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
Pyruvate carboxylase deficiency. Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 1 Topics: Carboxy-Lyases; Citrulline; Humans; Infant, Newborn; Lactates; Lactic Acid; Male; Metabolism, Inborn Errors; Pyruvate Carboxylase Deficiency Disease	1984
Treatment of congenital hyperammonemias. Enzyme, 1984, Volume: 32, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Humans; Metabolism, Inborn Errors; Nitrogen; Serotonin; Urea	1984
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias. European journal of pediatrics, 1980, Volume: 134, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Middle Aged; Orotic Acid	1980
Low incidence of citrullinemia carriers among dairy cattle of the United States. Journal of dairy science, 1993, Volume: 76, Issue:3 Topics: Animals; Cattle; Cattle Diseases; Citrulline; DNA; Genetic Carrier Screening; Genotype; Leukocytes; Male; Metabolism, Inborn Errors; Semen; United States	1993
Mitochondrial abnormalities of liver in two children with citrullinaemia. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:4 Topics: Cell Nucleus; Child; Child, Preschool; Citrulline; Humans; Liver; Male; Metabolism, Inborn Errors; Microscopy, Electron; Mitochondria, Liver; Succinate Dehydrogenase; Urea	1997
Inborn errors of metabolism with a protein-restricted diet: effect on polyunsaturated fatty acids. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:6 Topics: alpha-Linolenic Acid; Amino Acid Metabolism, Inborn Errors; Arachidonic Acid; Child; Child, Preschool; Citrulline; Diet, Protein-Restricted; Docosahexaenoic Acids; Fatty Acids, Monounsaturated; Fatty Acids, Unsaturated; Humans; Infant; Infant, Newborn; Linoleic Acid; Metabolism, Inborn Errors; Methylmalonic Acid; Myristic Acid; Ornithine Carbamoyltransferase Deficiency Disease; Phospholipids	1997
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. European journal of pediatrics, 1999, Volume: 158, Issue:1 Topics: Adenosine Triphosphatases; Ataxia; Citrulline; DNA, Mitochondrial; Female; Humans; Infant; Infant, Newborn; Intestine, Small; Male; Metabolism, Inborn Errors; Muscle Weakness; Mutation; Oxidative Phosphorylation; Pedigree; Retinitis Pigmentosa; Syndrome	1999
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
New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet (London, England), 1979, Sep-01, Volume: 2, Issue:8140 Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Citrulline; Dietary Proteins; Hippurates; Humans; Infant; Metabolism, Inborn Errors; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Phenylacetates; Urea	1979
Biochemistry of mental retardation. Proceedings of the Royal Society of Medicine, 1975, Volume: 68, Issue:9 Topics: Aged; Citrulline; Female; Glycine; Histidine; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Phenylketonurias	1975
Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy. Clinica chimica acta; international journal of clinical chemistry, 1992, Jul-31, Volume: 209, Issue:1-2 Topics: Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Child; Child, Preschool; Citrulline; Female; Humans; Magnetic Resonance Spectroscopy; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Urea	1992
Allopurinol challenge test in children. Journal of inherited metabolic disease, 1992, Volume: 15, Issue:5 Topics: Adolescent; Aging; Allopurinol; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Urea; Uridine	1992
EEG changes during recovery from acute severe neonatal citrullinemia. Electroencephalography and clinical neurophysiology, 1991, Volume: 78, Issue:3 Topics: Ammonia; Brain; Brain Diseases; Citrulline; Electroencephalography; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors	1991
Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases. Prenatal diagnosis, 1991, Volume: 11, Issue:9 Topics: Amniocentesis; Amniotic Fluid; Argininosuccinic Acid; Chorionic Villi Sampling; Citrulline; Female; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Propionates	1991
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
Haloperidol-induced hyperammonaemia in a child with citrullinaemia. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:5 Topics: Ammonia; Attention Deficit Disorder with Hyperactivity; Child, Preschool; Citrulline; Haloperidol; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors	1990
A non-enzymatic method for identification of citrullinemia heterozygotes. Clinical genetics, 1989, Volume: 35, Issue:6 Topics: Argininosuccinate Synthase; Citrulline; Heterozygote; Humans; Infant; Male; Metabolism, Inborn Errors	1989
The diagnosis of ornithine transcarbamylase deficiency. Journal of pediatric gastroenterology and nutrition, 1985, Volume: 4, Issue:1 Topics: Animals; Carbamyl Phosphate; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Metabolism, Inborn Errors; Mitochondria; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid	1985
Human cell cultures. Their use in the investigation and diagnosis of disease. The Medical clinics of North America, 1970, Volume: 54, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Cell Line; Child; Child, Preschool; Chromosomes, Human, 21-22 and Y; Citrulline; Culture Techniques; Down Syndrome; Female; Fibroblasts; Genetic Diseases, Inborn; Glycogen Storage Disease; Glycosaminoglycans; Humans; Infant; Infant, Newborn; Lymphocytes; Malonates; Metabolism, Inborn Errors; Methane; Skin; Staining and Labeling; Trisomy	1970
Growth of establishes lymphocytes in selective media: application to studies of inborn metabolic errors and somatic mutations. Birth defects original article series, 1973, Volume: 9, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Citrulline; Culture Media; DNA, Viral; Galactosemias; Herpesvirus 4, Human; Humans; Hybrid Cells; Lesch-Nyhan Syndrome; Lymphocytes; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Mutation; Pentosyltransferases	1973
Detection of inborn errors of metabolism. III. Defects in urea cycle metabolism. Clinical genetics, 1974, Volume: 6, Issue:2 Topics: Arginine; Autoradiography; Carbon Radioisotopes; Cells, Cultured; Citrulline; Fibroblasts; Humans; Ligases; Lyases; Metabolism, Inborn Errors; Succinates	1974
[Proceedings: Citrulinemia associated with goiter due to a defect in iodine condensation mechanism]. Nihon Naibunpi Gakkai zasshi, 1974, Feb-20, Volume: 50, Issue:2 Topics: Adult; Citrulline; Goiter; Humans; Iodine; Ligases; Male; Metabolism, Inborn Errors	1974
Liver morphology in a case of citrullinemia (a light and electron microscopic study). Beitrage zur Pathologie, 1974, Volume: 151, Issue:2 Topics: Citrulline; Fatty Liver; Humans; Infant, Newborn; Infant, Newborn, Diseases; Liver; Male; Metabolism, Inborn Errors; Microscopy, Electron; Necrosis	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
Management of newborn babies in whom serious metabolic illness is anticipated. Archives of disease in childhood, 1974, Volume: 49, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Blood; Blood Protein Electrophoresis; Citrulline; Dietary Carbohydrates; Electrophoresis; Exchange Transfusion, Whole Blood; Female; Glucose; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Infusions, Parenteral; Labor, Induced; Metabolism, Inborn Errors; Patient Care Planning; Pregnancy; Umbilical Cord	1974
Neurologic disorders and liver disease. Postgraduate medicine, 1971, Volume: 50, Issue:3 Topics: Adipose Tissue; Ammonia; Brain Diseases; Citrulline; Fatty Liver; Galactosemias; Hepatic Encephalopathy; Hepatitis; Hepatolenticular Degeneration; Humans; Hyperbilirubinemia, Hereditary; Kidney Diseases; Liver; Liver Diseases; Metabolism, Inborn Errors; Mucopolysaccharidoses; Nervous System Diseases; Neurologic Manifestations; Paraplegia; Phenylketonurias; Quadriplegia; Urea	1971
Early dietary management in an infant with argininosuccinase deficiency: preliminary report. The Journal of pediatrics, 1972, Volume: 80, Issue:4 Topics: Ammonia; Arginine; Blood Urea Nitrogen; Child Development; Child, Preschool; Citrulline; Diet Therapy; Dietary Proteins; Female; Growth; Humans; Infant; Lyases; Metabolism, Inborn Errors; Succinates	1972
Citrullinemia: a new case, with implications concerning adaptation to defective urea synthesis. Pediatric research, 1972, Volume: 6, Issue:7 Topics: Adult; Amino Acids; Ammonia; Citrulline; Dietary Proteins; Fibroblasts; Humans; Intellectual Disability; Ligases; Lysine; Male; Metabolism, Inborn Errors; Urea	1972
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
[Hereditary anomalies of the urea cycle]. La Presse medicale, 1968, May-18, Volume: 76, Issue:24 Topics: Ammonia; Arginine; Citrulline; Humans; Ligases; Lyases; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Phosphotransferases; Succinates; Urea	1968