arginine and CBS Deficiency

arginine has been researched along with CBS Deficiency in 16 studies

Research

Studies (16)

TimeframeStudies, this research(%)All Research%
pre-19909 (56.25)18.7374
1990's1 (6.25)18.2507
2000's1 (6.25)29.6817
2010's4 (25.00)24.3611
2020's1 (6.25)2.80

Authors

AuthorsStudies
Aarsand, AK; Aguilera, P; Brunet, M; Deulofeu, R; García-Villoria, J; Gómez-Gómez, À; Pozo, OJ; Sandberg, S; To-Figueras, J; Wijngaard, R1
Blom, HJ; Castro, R; Davids, M; Esse, R; Florindo, C; Gupta, S; Imbard, A; Kruger, WD; Quinlivan, EP; Tavares de Almeida, I; Teerlink, T1
Hnízda, A; Janošík, M; Kopecká, J; Kožich, V; Krijt, J; Melenovská, P; Raková, K; Wilcken, B1
Beckmann, B; Chobanyan-Jürgens, K; Das, AM; Illsinger, S; Kanzelmeyer, N; Lücke, T; Tsikas, D; Vaske, B1
Blom, HJ; Castro, R; Jakobs, C; Janssen, MC; Kluijtmans, LA; Rivera, I; Rocha, MS; Smulders, Y; Tavares de Almeida, I; Teerlink, T1
Green, K; Sim, AS; Wang, J; Wilcken, B; Wilcken, DE1
Braga, MJ; Chaves, CR; Correia, PS; de Menezes, CR; de Oliveira, CP; de Oliveira, ML; Horovitz, DG; Llerena Júnior, JC; Rosa, AA; Simoni, RE1
Desnick, RJ; Fleisher, LD; Gaull, GE; Muir, A; Rassin, DK1
Cusworth, DC; Gattereau, A1
Coffey, VP; Martin, MC; Moore, PT1
Carton, D; Hooft, C1
Kroll, S; Toussaint, W; Zebisch, P2
Menne, F1
Barkin, E; Levy, HL1
Berry, HK1

Reviews

1 review(s) available for arginine and CBS Deficiency

ArticleYear
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
    Hippokrates, 1968, May-31, Volume: 39, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine

1968

Other Studies

15 other study(ies) available for arginine and CBS Deficiency

ArticleYear
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:4

    Topics: Acetylgalactosamine; Adult; Arginine; Cystathionine beta-Synthase; Female; Folic Acid; Heme; Homeostasis; Homocysteine; Homocystinuria; Humans; Hydroxymethylbilane Synthase; Hyperhomocysteinemia; Male; Methionine; Middle Aged; Porphyria, Acute Intermittent; Pyridoxal Phosphate; Pyrrolidines; Young Adult

2021
Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2014, Volume: 28, Issue:6

    Topics: Animals; Arginine; Brain; Cystathionine beta-Synthase; Disease Models, Animal; DNA Methylation; Histones; Homocysteine; Homocystinuria; Liver; Methylation; Mice; S-Adenosylhomocysteine

2014
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
    Journal of inherited metabolic disease, 2015, Volume: 38, Issue:2

    Topics: Animals; Arginine; Catalytic Domain; CHO Cells; Cricetulus; Cystathionine beta-Synthase; Female; Fibroblasts; Genetic Predisposition to Disease; Heme; Homocystinuria; Homozygote; Humans; Models, Molecular; Molecular Chaperones; Mutation; Phenotype; Protein Conformation; Protein Folding; Proteostasis Deficiencies; Structure-Activity Relationship; Substrate Specificity; Transfection

2015
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.
    Amino acids, 2012, Volume: 42, Issue:5

    Topics: Adolescent; Amidohydrolases; Arginine; Cardiovascular Diseases; Child; Child, Preschool; Dimethylamines; Homocystinuria; Humans; Metabolic Networks and Pathways; Nitric Oxide; Phenylketonurias; Risk Factors; Young Adult

2012
Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.
    Atherosclerosis, 2012, Volume: 222, Issue:2

    Topics: Adult; Arginine; Biomarkers; Chromatography, High Pressure Liquid; Endothelium, Vascular; Homocysteine; Homocystinuria; Humans

2012
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: relevance of renal function.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1

    Topics: Adult; Arginine; Creatinine; Cystathionine beta-Synthase; Cystatin C; Cystatins; Female; Homocysteine; Homocystinuria; Humans; Kidney; Male; Middle Aged; Nitrates; Nitrites; Pyridoxine; Renal Insufficiency

2006
Hyperargininaemia: a late-diagnosed Brazilian case with increased urinary excretion of homocystine.
    Journal of inherited metabolic disease, 1997, Volume: 20, Issue:5

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Homocystinuria; Humans; Male

1997
Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria".
    Clinica chimica acta; international journal of clinical chemistry, 1979, Jun-01, Volume: 94, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Arginine; Argininosuccinic Acid; Female; Fetus; Genetic Carrier Screening; Homocystinuria; Homozygote; Humans; Pregnancy; Prenatal Diagnosis

1979
Inhibition of renal tubular reabsorption of homocystine by lysine and arginine.
    Lancet (London, England), 1968, Oct-26, Volume: 2, Issue:7574

    Topics: Adolescent; Aminobutyrates; Animals; Arginine; Female; Homocystine; Homocystinuria; Humans; Kidney Tubules; Lysine; Rats

1968
Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin.
    Journal of mental deficiency research, 1972, Volume: 16, Issue:2

    Topics: Adolescent; Adult; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cystinuria; Female; Glycine; Glycosaminoglycans; Glycosuria; Homocystinuria; Hospitals, Psychiatric; Humans; Indoles; Infant; Intellectual Disability; Ireland; Lysine; Male; Metabolism, Inborn Errors; Phenylketonurias; Polysaccharides; Proteinuria; Succinates

1972
Pediatric clinical aspects of aminoacidopathies.
    Monographs in human genetics, 1972, Volume: 6

    Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Female; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias; Pregnancy; Sex Factors; Succinates; Urea

1972
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
    Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11

    Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; Cystinosis; Diagnosis, Differential; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine

1972
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
    Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11

    Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Laboratory Techniques; Cystathionine; Cystinosis; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine

1972
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
    The Journal of laboratory and clinical medicine, 1971, Volume: 78, Issue:4

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transport; Child; Chromatography, Ion Exchange; Cystine; Erythrocytes; Glutamates; Glutathione; Glycine; Histidine; Homocystine; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Ornithine; Phenylketonurias; Plasma; Renal Tubular Transport, Inborn Errors; Serine; Spectrophotometry; Threonine; Tyrosine

1971
Hereditary disorders of amino acid metabolism associated with mental deficiency.
    Annals of the New York Academy of Sciences, 1969, Sep-30, Volume: 166, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Citrulline; Deficiency Diseases; Hartnup Disease; Homocystinuria; Humans; Intellectual Disability; Maple Syrup Urine Disease; Phenylketonurias; Succinates

1969