arginine and BCKD Deficiency

arginine has been researched along with BCKD Deficiency in 15 studies

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-199013 (86.67)18.7374
1990's1 (6.67)18.2507
2000's1 (6.67)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
DENT, CE1
COFFEY, VP1
WOODY, NC1
Almashanu, S; Ambulos, N; Appel, M; Carmi, R; Chinsky, J; Costeas, P1
Chuang, DT; Chuang, JL; Mandel, H; Sansaricq, C; Wynn, RM1
Levy, HL2
Frimpter, GW1
Carton, D; Hooft, C1
Kroll, S; Toussaint, W; Zebisch, P2
Menne, F1
Barkin, E; Levy, HL1
Berry, HK1
Antener, I1

Reviews

3 review(s) available for arginine and BCKD Deficiency

ArticleYear
Genetic screening.
    Advances in human genetics, 1973, Volume: 4

    Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Erythrocytes; Fanconi Syndrome; Galactosemias; Genetics, Population; Glucosephosphate Dehydrogenase; Glycine; Hartnup Disease; Heterozygote; Histidine; Homocystine; Humans; Lysine; Maple Syrup Urine Disease; Mass Screening; Methods; Ornithine; Phenylalanine; Phenylketonurias; Succinates; Tyrosine

1973
Aminoacidurias due to inherited disorders of metabolism. 2.
    The New England journal of medicine, 1973, Oct-25, Volume: 289, Issue:17

    Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline; Dipeptides; Glutarates; Glycine; Histidine; Humans; Hydroxyproline; Hyperglycemia; Infant, Newborn; Keto Acids; Lysine; Malonates; Maple Syrup Urine Disease; Ornithine Carbamoyltransferase; Phosphotransferases; Proline; Sarcosine; Succinates; Urea; Valine

1973
[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

12 other study(ies) available for arginine and BCKD Deficiency

ArticleYear
Argininosuccinic aciduria and maple syrup urine disease.
    Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften, 1962, Volume: 17

    Topics: Arginine; Argininosuccinic Aciduria; Body Fluids; Humans; Maple Syrup Urine Disease; Metabolic Diseases

1962
MENTAL RETARDATION AND THE INBORN ERRORS OF METABOLISM.
    Journal of the Irish Medical Association, 1964, Volume: 54

    Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Fructose; Galactosemias; Histidine; Homocysteine; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Renal Aminoacidurias; Vitamin B 6 Deficiency

1964
HYPERLYSINEMIA.
    American journal of diseases of children (1960), 1964, Volume: 108

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Alcohols; Aminobutyrates; Anemia; Arginine; Asthenia; Blood Chemical Analysis; Child; Chromatography; Genetics, Medical; Growth; Humans; Hyperlysinemias; Infant; Lysine; Maple Syrup Urine Disease; Muscular Diseases; Ornithine; Seizures; Urine

1964
A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
    Human mutation, 1998, Volume: 12, Issue:2

    Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Arginine; Consanguinity; Humans; Ketone Oxidoreductases; Maple Syrup Urine Disease; Multienzyme Complexes; Mutation, Missense; Pedigree

1998
Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.
    The Journal of biological chemistry, 2001, Sep-28, Volume: 276, Issue:39

    Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Alleles; Arginine; Blotting, Western; Cell Line; Child; Child, Preschool; Chromatography, Gel; Dimerization; Dose-Response Relationship, Drug; Escherichia coli; Family Health; Female; Glutamic Acid; Guanidine; Heterozygote; Homozygote; Humans; Israel; Ketone Oxidoreductases; Kinetics; Male; Maple Syrup Urine Disease; Models, Molecular; Multienzyme Complexes; Mutation; Plasmids; Protein Binding; Sequence Analysis, DNA; Serine; Temperature; Time Factors

2001
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
Genetic screening: notes added in proof.
    Advances in human genetics, 1973, Volume: 4

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystathionine; Galactosemias; Genetics, Population; Histidine; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias; Succinates

1973
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
[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics].
    Zeitschrift fur klinische Chemie und klinische Biochemie, 1970, Sep-08, Volume: 7, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Cystinuria; Electrophoresis; Fanconi Syndrome; Feces; Histidine; Humans; Keto Acids; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias

1970