citrulline has been researched along with orotic acid in 51 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 30 (58.82) | 18.7374 |
1990's | 11 (21.57) | 18.2507 |
2000's | 7 (13.73) | 29.6817 |
2010's | 2 (3.92) | 24.3611 |
2020's | 1 (1.96) | 2.80 |
Authors | Studies |
---|---|
Batshaw, M; Brusilow, SW; Valle, DL | 1 |
Ha, YH; Milner, JA | 1 |
Brusso, T; Spate, M; Whelan, DT | 1 |
Milner, JA; Visek, WJ | 1 |
Shiro, Y; Yabuki, S | 1 |
Bordugo, A; Burlina, AB; Dionisi-Vici, C; Ferrari, V; Tuchman, M; Zacchello, F | 1 |
Gerlo, E; Pardou, A; Vermeylen, D; Wayenberg, JL | 1 |
Azorín, I; Felipo, V; Grisolía, S; Miñana, MD | 1 |
Alonso, E; Rubio, V | 1 |
Zieve, L | 1 |
Kato, T; Mizutani, N; Sano, M | 1 |
Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G | 1 |
Coskun, T; Kneer, J; Mönch, S; Ozalp, I | 1 |
Bachmann, C; Grossschädl, F; Roscher, A; Stöckler, S | 1 |
Girgis, N; Herrin, J; McGravey, V; Shah, BL; Shih, VE | 1 |
de Parscau, L; Divry, P; Guibaud, P; Hermier, M; Vianey-Liaud, C | 1 |
Morris, JG | 1 |
Batshaw, ML | 1 |
Clow, CL; Mackenzie, S; Scriver, CR; Simell, O | 1 |
Schwartz, AL | 1 |
Buist, NR; Hepburn, CA; Kennaway, NG; Ramberg, DA; Strandholm, JJ | 1 |
Bellinger, JF; Buist, NR | 1 |
DeHackbeil, KF; Lis, AW; Lis, EW | 1 |
Ito, K; Uchino, H | 1 |
Appel, SH; Silberberg, DH | 1 |
Cohen, PP; Lan, SJ; Sallach, HJ | 1 |
Cerra, FB; Goodman, MW; Konstantinides, FN; Zieve, L | 1 |
Baker, DH; Czarnecki, GL | 1 |
Altman, RP; Glasgow, AM; Schulman, JD; Stolar, CJ | 1 |
Carter, M; Donnel, GN; Koch, R; McLaren, J; Ng, WG; Oizumi, J; Shaw, KN | 1 |
Bachmann, C; Colombo, JP | 1 |
Campistol, J; Fabrega, C; Mas, A; Pineda, M; Vernet, A; Vilaseca, MA | 1 |
Hartman, WJ; Prior, RL; Torre, PM | 1 |
Kanzaki, T; Mori, M; Murakami, T; Noda, T; Saheki, T; Shimada, T; Takiguchi, M; Tashiro, M; Yamamura, K | 1 |
Donati, MA; Filippi, L; Resti, M; Zammarchi, E | 1 |
Ahrens, MJ; Berry, SA; Markowitz, DJ; Plante, RJ; Tuchman, M; Whitley, CB | 1 |
Fukushige, T; Kakinoki, H; Kobayashi, K; Saheki, T | 1 |
Celli, M; Crifò, C; D'Eufemia, P; Finocchiaro, R; Giardini, O; Salerno, C | 1 |
Sass, JO; Skladal, D | 1 |
Liesivuori, J; Pennanen, S; Penttinen, J | 1 |
Cederbaum, SD; Steiner, RD | 1 |
Hebiguchi, T; Imai, H; Kato, T; Komatsuda, A; Mizuno, M; Wakui, H; Yoshino, H | 1 |
Cremades, A; Monserrat, F; Peñafiel, R; Ruzafa, C | 1 |
Andrews, AW; Baugh, CL; Surgalla, MJ | 1 |
KESNER, L | 1 |
Berger, R; Besley, GT; Cleary, MA; de Koning, TJ; Dorland, L; Duran, M; Mandell, R; Olpin, SE; Poll-The, BT; Shih, VE | 1 |
Blanke, CD; Chan, JS; Harding, CO | 1 |
Amaral, AU; Dutra Filho, CS; Ferreira, Gda C; Knebel, LA; Schuck, PF; Tonin, AM; Viegas, CM; Wajner, M; Wannmacher, CM; Zanatta, A | 1 |
Cao, Y; Li, XT; Sun, WH; Wang, Y; Yang, Y; Zhang, M; Zhang, YP | 1 |
Gao, X; Gong, Z; Gu, X; Han, F; Han, L; Jin, J; Qiu, W; Wang, Y; Ye, J; Zhang, H | 1 |
Abu Salah, N; Almashanu, S; Anikster, Y; Banne, E; Blau, A; Daas, S; Dar, D; Dumin, E; Falik-Zaccai, T; Fattal-Valevski, A; Hershkovitz, E; Josefsberg, S; Keidar, R; Khammash, H; Korman, SH; Landau, Y; Lerman-Sagie, T; Mandel, D; Mandel, H; Marom, R; Morag, I; Nadir, E; Pode-Shakked, B; Pras, E; Reznik-Wolf, H; Rostami, N; Saada, A; Saraf-Levy, T; Segel, R; Shaag, A; Shaul Lotan, N; Spiegel, R; Staretz-Chacham, O; Tal, G; Ulanovsky, I; Vaisid, T; Yosha-Orpaz, N; Zeharia, A | 1 |
3 review(s) available for citrulline and orotic acid
Article | Year |
---|---|
[A case of ornithine transcarbamylase deficiency presenting severe symptoms in adulthood].
Topics: Adult; Ammonia; Arginine; Citrulline; Consciousness Disorders; Female; Glycine; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1992 |
Conditional deficiencies of ornithine or arginine.
Topics: Amino Acids; Amino Acids, Branched-Chain; Ammonia; Animals; Arginine; Citrulline; Female; Glycine; Hepatic Encephalopathy; Humans; Liver Cirrhosis; Lysine; Models, Biological; Ornithine; Orotic Acid; Pregnancy; Protein Deficiency; Urease | 1986 |
Laboratory evaluation of urea cycle disorders.
Topics: Algorithms; Amino Acid Metabolism, Inborn Errors; Citrulline; DNA Mutational Analysis; Humans; Hyperammonemia; Orotic Acid; Urea | 2001 |
1 trial(s) available for citrulline and orotic acid
Article | Year |
---|---|
the allopurinol test in patients with Rett syndrome.
Topics: Acids; Adolescent; Allopurinol; Amino Acids; Child; Citrulline; Female; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Quaternary Ammonium Compounds; Rett Syndrome | 1993 |
47 other study(ies) available for citrulline and orotic acid
Article | Year |
---|---|
New pathways of nitrogen excretion in inborn errors of urea synthesis.
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 |
Urea cycle operation in the arginine deficient rat.
Topics: Ammonia; Animals; Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinate Synthase; Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing); Citrulline; Liver; Male; Ornithine; Ornithine Carbamoyltransferase; Orotic Acid; Rats; Urea | 1979 |
Citrullinemia: phenotypic variations.
Topics: Amino Acids; Ammonia; Argininosuccinate Synthase; Blood Urea Nitrogen; Citrulline; Female; Humans; Infant; Orotic Acid; Phenotype | 1976 |
Urinary metabolites characteristic of urea-cycle amino acid deficiency.
Topics: Amino Acids; Amino Acids, Essential; Ammonia; Animal Nutritional Physiological Phenomena; Animals; Arginine; Biotransformation; Body Weight; Carbamyl Phosphate; Citrates; Citrulline; Deficiency Diseases; Diet; Male; Nitrogen; Ornithine; Orotic Acid; Pyrimidines; Rats; Urea | 1975 |
Allopurinol challenge test in children.
Topics: Adolescent; Aging; Allopurinol; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Urea; Uridine | 1992 |
Increased intracranial pressure in a neonate with citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Brain; Citrulline; Female; Humans; Infant, Newborn; Intracranial Pressure; Orotic Acid; Tomography, X-Ray Computed | 1992 |
A simple animal model of hyperammonemia.
Topics: Acetates; Ammonia; Animals; Citrulline; Disease Models, Animal; Glutamate Dehydrogenase; Liver; Male; Orotic Acid; Rats; Rats, Inbred Strains; Urea | 1989 |
Orotic aciduria due to arginine deprivation: changes in the levels of carbamoyl phosphate and of other urea cycle intermediates in mouse liver.
Topics: Animals; Arginine; Body Weight; Carbamates; Carbamyl Phosphate; Citrulline; Diet; Glutamates; Liver; Male; Mice; Mice, Inbred Strains; Ornithine; Orotic Acid | 1989 |
Inhibitory effect of intravenous lysine infusion on urea cycle metabolism.
Topics: Adolescent; Amino Acids; Ammonia; Child; Citric Acid Cycle; Citrulline; Depression, Chemical; Female; Humans; Infusions, Intravenous; Lysine; Male; Orotic Acid; Putrescine; Urea | 1987 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Citrulline; Creatine; Female; Humans; Lysine; Male; Ornithine; Orotic Acid; Syndrome | 1987 |
Lethal hyperammonaemic coma due to ornithine transcarbamylase deficiency presenting as brain stem encephalitis in a previously asymptomatic ten-year-old boy.
Topics: Ammonia; Brain Stem; Child; Citrulline; Coma; Diagnosis, Differential; Encephalitis; Humans; Male; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1987 |
Ornithine transcarbamylase variant in a male patient.
Topics: Amino Acids; Ammonia; Citrulline; Dietary Proteins; Genetic Variation; Humans; Hydrogen-Ion Concentration; Infant; Liver; Male; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1987 |
Lethal ornithine transcarbamylase deficiency in a female neonate.
Topics: Ammonia; Arginine; Citrulline; Coma; Female; Humans; Infant, Newborn; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Peritoneal Dialysis; Stevens-Johnson Syndrome | 1987 |
[Protein intolerance with lysinuria. Value of orotic aciduria in adjusting treatment with citrulline].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Diamino; Ammonia; Biological Transport; Cell Membrane; Citrulline; Consanguinity; Dietary Proteins; Humans; Lysine; Male; Orotic Acid; Osteoporosis | 1988 |
Nutritional and metabolic responses to arginine deficiency in carnivores.
Topics: Aging; Animal Nutritional Physiological Phenomena; Animals; Arginine; Carnivora; Cats; Citrulline; Dogs; Glutamine; Intestinal Mucosa; Kidney; Liver; Muscles; Nutritional Requirements; Ornithine; Ornithine-Oxo-Acid Transaminase; Orotic Acid; Rats; Species Specificity; Urea | 1985 |
The diagnosis of ornithine transcarbamylase deficiency.
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 |
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child; Citrulline; Cytoplasm; Humans; Male; Ornithine; Orotic Acid; Syndrome | 1985 |
Influence of glucagon, 6-N,2'-O-dibutyryladenosine 3':5'-cyclic monophosphate and triamcinolone on the arginine synthetase system in perinatal rat liver.
Topics: Adenine Nucleotides; Animals; Carbon Isotopes; Citrulline; Cyclic AMP; Cycloheximide; Dactinomycin; Female; Gestational Age; Glucagon; Hydrocortisone; Leucine; Ligases; Liver; Lyases; Microscopy, Electron; Organ Culture Techniques; Orotic Acid; Pregnancy; Rats; Triamcinolone | 1972 |
Citrullinemia: investigation and treatment over a four-year period.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Child, Preschool; Citrulline; Dietary Proteins; Dipeptides; Female; Fibroblasts; Follow-Up Studies; Guanidines; Humans; Infant; Infant, Newborn; Orotic Acid; Peptide Synthases; Urea; Uric Acid | 1974 |
Rapid column-chromatographic measurement of orotic acid.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Citrulline; Humans; Methods; Orotic Acid; Spectrum Analysis; Ultraviolet Rays | 1971 |
Ultraviolet-absorbing components of urine from mentally retarded children. 3.
Topics: Adolescent; Adult; Ammonia; Autistic Disorder; Central Nervous System Diseases; Child; Child, Preschool; Chromatography, Ion Exchange; Chromatography, Paper; Citrulline; Creatinine; Dialysis; Humans; Hypnotics and Sedatives; Intellectual Disability; Male; Nephrectomy; Orotic Acid; RNA, Messenger; Sleep; Tranquilizing Agents; Ultraviolet Rays | 1970 |
Control of pyrimidine biosynthesis in human lymphocytes. Induction of glutamine-utilizing carbamyl phosphate synthetase and operation of orotic acid pathway during blastogenesis.
Topics: Adult; Anhydrides; Carbamates; Carbon Dioxide; Carbon Isotopes; Cell Differentiation; Cell Line; Chemical Precipitation; Chromatography, Ion Exchange; Chromatography, Paper; Citrulline; Culture Techniques; Dactinomycin; Electrophoresis; Enzyme Induction; Glutamates; Glutamine; Humans; Hydrolysis; Lectins; Lymphocytes; Orotic Acid; Paper; Phosphoric Acids; Phosphotransferases; Puromycin; Pyrimidines; Quaternary Ammonium Compounds; Sulfates; Uracil; Uracil Nucleotides | 1971 |
Pyrimidine synthesis in tissue culture.
Topics: Animals; Aspartic Acid; Bicarbonates; Brain; Carbon Isotopes; Cerebellum; Chromatography, Thin Layer; Citrulline; Culture Techniques; Ligases; Liver; Orotic Acid; Pyrimidines; Rats; RNA; Sodium; Spectrum Analysis; Triazines; Tritium; Uridine | 1968 |
The enzymatic steps of pyrimidine biosynthesis in the unfertilized frog egg.
Topics: Ammonium Chloride; Animals; Anura; Aspartic Acid; Bicarbonates; Carbamates; Carbon Dioxide; Carbon Isotopes; Citrulline; Female; Fertilization; Glutamine; Orotic Acid; Ovary; Ovulation; Ovum; Phosphates; Phosphotransferases; Pyrimidines; Transferases; Uracil Nucleotides | 1969 |
Mechanism of arginine protection against ammonia intoxication in the rat.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Male; Mitochondria, Liver; Ornithine; Ornithine Carbamoyltransferase; Orotic Acid; Rats; Rats, Inbred Strains; Urea | 1984 |
Urea cycle function in the dog with emphasis on the role of arginine.
Topics: Age Factors; Ammonia; Animals; Arginine; Blood Glucose; Citrulline; Dogs; Ornithine; Orotic Acid; Urea; Vomiting | 1984 |
Ammonia metabolism in dogs with portacaval shunts.
Topics: Ammonia; Animals; Arginine; Body Weight; Citrulline; Dogs; Female; Liver; Nitrogen; Organ Size; Orotic Acid; Portacaval Shunt, Surgical; Urea | 1982 |
Carrier detection of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Female; Genetic Carrier Screening; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pedigree; Pregnancy; Prenatal Diagnosis; Urea | 1981 |
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
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 |
Dietary citrulline but not ornithine counteracts dietary arginine deficiency in rats by increasing splanchnic release of citrulline.
Topics: Alanine; Amino Acids; Ammonia; Animals; Arginine; Blood Flow Velocity; Body Weight; Citrulline; Creatinine; Diet; Food; Glutamic Acid; Glutamine; Male; Ornithine; Orotic Acid; Proline; Rats; Rats, Sprague-Dawley; Splanchnic Circulation; Urea | 1994 |
Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene.
Topics: Animals; Arginine; Citrulline; Crosses, Genetic; Disease Models, Animal; Female; Genetic Linkage; Hair; Intestine, Small; Liver; Male; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Mice, Transgenic; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Phenotype; Rats; Skin Abnormalities; X Chromosome | 1994 |
Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.
Topics: Absorption; Ammonia; Arginine; Child, Preschool; Citrulline; Diagnosis, Differential; Dietary Proteins; Female; Glutamine; Hepatitis; Humans; Infant; Lysine; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Urea | 1996 |
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
Topics: Allopurinol; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Female; Glutamine; Heterozygote; Humans; Infant, Newborn; Male; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pedigree | 1996 |
No increase of ornithine concentration in the liver of ornithine transcarbamylase-deficient spf-ash mice following intraperitoneal injection of ammonium chloride.
Topics: Ammonia; Ammonium Chloride; Animals; Arginine; Citrulline; Liver; Mice; Mice, Inbred Strains; Mice, Transgenic; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Peptones | 1997 |
Determination of urinary orotic acid and uracil by capillary zone electrophoresis.
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 |
Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.
Topics: Amino Acids; Arginine; Child; Chromatography, Gas; Citrulline; Citrullinemia; Creatinine; Glutamine; Humans; Male; Ornithine; Orotic Acid; Quaternary Ammonium Compounds; Time Factors | 1999 |
Indicators of L-arginine metabolism and cardiovascular risk factors--a cross-sectional study in healthy middle-aged men.
Topics: Adult; Arginine; Blood Pressure; Cardiovascular Diseases; Cholesterol, LDL; Citrulline; Creatinine; Cross-Sectional Studies; Humans; Male; Middle Aged; Orotic Acid; Risk Factors | 2000 |
Extremely short small bowel induces focal tubulointerstitial fibrosis.
Topics: Animals; Arginine; Citrulline; Disease Models, Animal; Fibrosis; Immunohistochemistry; Kidney; Male; Orotic Acid; Rats; Rats, Sprague-Dawley; Short Bowel Syndrome | 2001 |
Influence of dietary arginine on sexual dimorphism of arginine metabolism in mice.
Topics: Animals; Arginase; Arginine; Citrulline; Creatinine; Diet; Female; Kidney; Male; Mice; Muscle, Skeletal; Nitric Oxide Synthase; Ornithine Decarboxylase; Ornithine-Oxo-Acid Transaminase; Orotic Acid; Putrescine; Sex Characteristics; Urea | 2003 |
EFFECTS OF BICARBONATE ON GROWTH OF PASTEURELLA PESTIS. 3. REPLACEMENT OF BICARBONATE BY PYRIMIDINES.
Topics: Arginine; Bicarbonates; Carbamates; Carbon Dioxide; Citrulline; Culture Media; Cytosine; Metabolism; Orotic Acid; Pharmacology; Phosphates; Pyrimidines; Research; Uracil; Yersinia pestis | 1964 |
THE EFFECT OF AMMONIA ADMINISTRATION ON OROTIC ACID EXCRETION IN RATS.
Topics: Ammonia; Ammonium Chloride; Antimetabolites; Arginine; Chromatography; Citrulline; Diet; Glutamine; Ornithine; Orotic Acid; Pharmacology; Rats; Research; Succinates; Urine | 1965 |
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Diagnosis, Differential; Female; Fibroblasts; Glutamine; Humans; Hyperammonemia; Infant, Newborn; Male; Mutation; Neonatal Screening; Ornithine; Ornithine-Oxo-Acid Transaminase; Orotic Acid | 2005 |
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency.
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 |
Experimental evidence that ornithine and homocitrulline disrupt energy metabolism in brain of young rats.
Topics: Analysis of Variance; Animals; Cerebral Cortex; Citric Acid Cycle; Citrulline; Creatine Kinase; Cytosol; Electron Transport Chain Complex Proteins; In Vitro Techniques; Mitochondria; Ornithine; Orotic Acid; Oxygen Consumption; Rats; Sodium-Potassium-Exchanging ATPase; Spectrophotometry; Synaptic Membranes | 2009 |
[Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
Topics: Citrulline; DNA Mutational Analysis; Exons; Heterozygote; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pedigree | 2011 |
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
Topics: Adolescent; Adult; Child; Child, Preschool; Citrulline; Gas Chromatography-Mass Spectrometry; Humans; Hyperammonemia; Infant; Infant, Newborn; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Tandem Mass Spectrometry; Young Adult | 2014 |
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Topics: Citrulline; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Israel; Male; Neonatal Screening; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Retrospective Studies; Urea Cycle Disorders, Inborn | 2021 |