citrulline and Argininosuccinic Aciduria

citrulline has been researched along with Argininosuccinic Aciduria in 26 studies

Research

Studies (26)

TimeframeStudies, this research(%)All Research%
pre-199013 (50.00)18.7374
1990's4 (15.38)18.2507
2000's2 (7.69)29.6817
2010's6 (23.08)24.3611
2020's1 (3.85)2.80

Authors

AuthorsStudies
Sahi, N; Salmanizadeh, H1
Burgard, P; Cederbaum, S; Cuthbertson, D; Holbert, A; McCarter, R; Waisbren, SE1
Banushi, B; Baruteau, J; Buckley, SMK; Diaz, JA; Gissen, P; Hanley, J; Heales, S; Howe, SJ; Hristova, M; Hughes, MP; Karda, R; Lorvellec, M; Mills, PB; Ng, J; Perocheau, DP; Prunty, H; Rahim, AA; Ridout, DA; Rocha-Ferreira, E; Suff, N; Virasami, A; Waddington, SN1
Hou, L; Li, J; Teng, H; Wang, J; Yang, L; Zhang, K; Zhao, M1
Erickson, J; Schrier Vergano, SA1
Ficicioglu, C; Mandell, R; Shih, VE1
Engel, K; Häberle, J; Herle, M; Mercimek-Mahmutoglu, S; Moeslinger, D; Muehl, A; Scheibenreiter, S; Stöckler-Ipsiroglu, S; Strobl, MW1
Erez, A; Lee, B; Nagamani, SC1
Batshaw, ML1
Baumgarten, IM; Davidson, JS; Harley, EH2
Batshaw, ML; Blom, W; Brubakk, AM; Brusilow, S; Burton, BK; Cann, HM; Kerr, D; Mamunes, P; Matalon, R; Myerberg, D; Schafer, IA; Waber, L1
Guthrie, R; Naylor, EW; Sumlin, AB; Talbot, HW1
Briand, P; Cathelineau, L; Kamoun, P; Pham Dinh, D2
Batshaw, ML; Brusilow, S; Painter, MJ; Schafer, IA; Sproul, GT; Thomas, GH1
Bervoets, K; Böhles, H; Förster, H; Renner, C; Sewell, AC1
Golbus, MS; Laframboise, R; Mandell, R; Packman, S; Saudubray, JM; Schmidt, K; Shih, VE; Workman, L1
Bauer, MF; Bieger, I; Gempel, K; Gerbitz, KD; Hofmann, S; Pontz, BF; Stadler, S1
Batshaw, M; Brusilow, SW; Valle, DL1
Kawamura, M1
Shih, VE1
Blanckaert, D; Delecour, M; Dhondt, JL; Farriaux, JP; Fontaine, G; Monnier, JC; Pollitt, RJ; Richard, P; Vamos, E1
Burns, SP; Iles, RA; Leonard, JV; Woolf, DA1
Gale, DS; Iafolla, AK; Roe, CR1
Maltby, DA; Millington, DS; Roe, CR1

Reviews

1 review(s) available for citrulline and Argininosuccinic Aciduria

ArticleYear
Argininosuccinate lyase deficiency.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2012, Volume: 14, Issue:5

    Topics: Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; Cognition Disorders; Diet, Protein-Restricted; Fumarates; Genetic Testing; Glucose; Humans; Hyperammonemia; Hypertension; Infant; Infant, Newborn; Lipids; Liver Diseases; Liver Transplantation; Neonatal Screening; Phenylbutyrates; Sodium Benzoate

2012

Other Studies

25 other study(ies) available for citrulline and Argininosuccinic Aciduria

ArticleYear
Determination of amino acid profile for argininosuccinic aciduria disorder using High-Performance Liquid Chromatography with fluorescence detection.
    Acta biochimica Polonica, 2020, Sep-14, Volume: 67, Issue:3

    Topics: Acetonitriles; Amino Acids; Argininosuccinate Lyase; Argininosuccinic Aciduria; Biomarkers; Case-Control Studies; Chromatography, High Pressure Liquid; Citrulline; Humans; Infant; Infant, Newborn; Iran; Methanol; Phosphates; Potassium Compounds; Spectrometry, Fluorescence; Water

2020
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
    Journal of inherited metabolic disease, 2018, Volume: 41, Issue:4

    Topics: Adolescent; Adult; Ammonia; Arginine; Argininosuccinic Aciduria; Biomarkers; Child; Child, Preschool; Citrulline; Citrullinemia; Female; Glutamine; Humans; Hyperargininemia; Longitudinal Studies; Male; Middle Aged; Neuropsychological Tests; Young Adult

2018
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.
    Nature communications, 2018, 08-29, Volume: 9, Issue:1

    Topics: Animals; Argininosuccinate Lyase; Argininosuccinic Aciduria; Brain Diseases; Citrulline; Genetic Therapy; Hyperammonemia; Liver; Mice; Neurons; Nitric Oxide; Nitrosative Stress

2018
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in
    BioMed research international, 2019, Volume: 2019

    Topics: Amino Acid Substitution; Argininosuccinate Lyase; Argininosuccinic Aciduria; Citrulline; Exome Sequencing; HEK293 Cells; Heterozygote; Humans; Infant; Male; Mutation, Missense

2019
Case 3: The Hypothermic Newborn.
    NeoReviews, 2019, Volume: 20, Issue:2

    Topics: Adenylosuccinate Lyase; Argininosuccinic Aciduria; Citrulline; Humans; Hypothermia; Infant, Newborn; Male; Neonatal Screening

2019
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
    Molecular genetics and metabolism, 2009, Volume: 98, Issue:3

    Topics: Argininosuccinate Lyase; Argininosuccinic Aciduria; Citrulline; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Neonatal Screening

2009
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
    Molecular genetics and metabolism, 2010, Volume: 100, Issue:1

    Topics: Adolescent; Adult; Arginine; Argininosuccinic Aciduria; Austria; Child; Child, Preschool; Citrulline; Electroencephalography; Female; Follow-Up Studies; Humans; Infant, Newborn; Male; Neonatal Screening; Treatment Outcome

2010
Hyperammonemia.
    Current problems in pediatrics, 1984, Volume: 14, Issue:11

    Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Edema; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Citrulline; Diagnosis, Differential; Female; Humans; Hyperargininemia; Infant; Infant, Newborn; Leucine; Ornithine Carbamoyltransferase; Respiratory Distress Syndrome, Newborn; Urea

1984
Metabolic cooperation between argininosuccinate synthetase and argininosuccinate lyase deficient human fibroblasts.
    Experimental cell research, 1984, Volume: 150, Issue:2

    Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Cell Communication; Cell Count; Cell Line; Citrulline; Culture Media; Fibroblasts; Humans; Intercellular Junctions; Kinetics; Leucine; Lymphocytes; Mutation; Protein Biosynthesis

1984
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.
    The New England journal of medicine, 1982, Jun-10, Volume: 306, Issue:23

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Benzoates; Benzoic Acid; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Infusions, Parenteral; Male; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Urea

1982
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
    Pediatrics, 1982, Volume: 70, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Blood Specimen Collection; Citric Acid Cycle; Citrulline; Humans; Infant, Newborn; Lyases; Mass Screening; Ornithine; Urea

1982
Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
    Advances in experimental medicine and biology, 1982, Volume: 153

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Cells, Cultured; Citrulline; Fibroblasts; Genetic Complementation Test; Humans; Ligases; Lyases

1982
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
    Human genetics, 1981, Volume: 57, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Cell Line; Citrulline; Female; Fibroblasts; Genetic Complementation Test; Humans; Infant, Newborn; Infant, Newborn, Diseases; Ligases; Lyases; Male; Polyethylene Glycols

1981
Therapy of urea cycle enzymopathies: three case studies.
    The Johns Hopkins medical journal, 1981, Volume: 148, Issue:1

    Topics: Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Lyases; Male; Ornithine Carbamoyltransferase Deficiency Disease; Urea

1981
Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition.
    European journal of pediatrics, 1995, Volume: 154, Issue:11

    Topics: Alkalosis; Ammonia; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrates; Citric Acid; Citrulline; Female; Humans; Nitrogen; Parenteral Nutrition, Total

1995
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.
    Prenatal diagnosis, 1996, Volume: 16, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Carbon Radioisotopes; Cells, Cultured; Chorionic Villi; Chorionic Villi Sampling; Citrulline; Female; Fetal Diseases; Fibroblasts; Humans; Infant; Infant, Newborn; Pregnancy; Pregnancy Trimester, Second; Renal Aminoacidurias; Tritium

1996
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:3

    Topics: Amino Acid Sequence; Amino Acids; Ammonia; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Base Sequence; Citrulline; Coma; Frameshift Mutation; Humans; Hyperammonemia; Infant, Newborn; Mass Spectrometry; Molecular Sequence Data; Neonatal Screening; Ornithine

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
[Citrullinemia and argininosuccinic aciduria].
    Nihon rinsho. Japanese journal of clinical medicine, 1978, Volume: Suppl

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Citrulline; Humans; Infant; Infant, Newborn; Male

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
[Attempt at antenatal diagnosis of argininosuccinic aciduria].
    Annales de genetique, 1976, Volume: 19, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Argininosuccinic Acid; Argininosuccinic Aciduria; Citrulline; Female; Humans; Lyases; Pregnancy; Prenatal Diagnosis

1976
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
Citrate therapy in argininosuccinate lyase deficiency.
    The Journal of pediatrics, 1990, Volume: 117, Issue:1 Pt 1

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Aspartic Acid; Child; Citrates; Citric Acid; Citrulline; Female; Humans; Infant; Lyases

1990
Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry.
    Clinica chimica acta; international journal of clinical chemistry, 1986, Mar-16, Volume: 155, Issue:2

    Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Child; Citrulline; Humans; Ligases; Lyases; Mass Spectrometry

1986
Effects of 12-O-tetradecanoylphorbol-13-acetate and retinoids on intercellular junctional communication measured with a citrulline incorporation assay.
    Carcinogenesis, 1985, Volume: 6, Issue:4

    Topics: Animals; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Aciduria; Cell Communication; Cell Line; Cells, Cultured; Citrulline; Cricetinae; Cricetulus; Dimethyl Sulfoxide; Fibroblasts; Fluocinolone Acetonide; Intercellular Junctions; Phorbols; Tetradecanoylphorbol Acetate; Tretinoin

1985