valine and CBS Deficiency

valine has been researched along with CBS Deficiency in 11 studies

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19908 (72.73)18.7374
1990's0 (0.00)18.2507
2000's2 (18.18)29.6817
2010's1 (9.09)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Manoli, I; Myles, JG; Venditti, CP1
Banerjee, R; Gherasim, C; Rosenblatt, DS1
Meister, A; Wellner, D1
Goyette, P; Rozen, R1
Royer, P1
Brissaud, HE1
Tomaszewski, L1
Menne, F1
Steuer, W1
Hagge, W; Irtel von Brenndorff, A1

Reviews

3 review(s) available for valine and CBS Deficiency

ArticleYear
Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
    Current opinion in clinical nutrition and metabolic care, 2018, Volume: 21, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Deficiency Diseases; Diet, Protein-Restricted; Foods, Specialized; Homocystinuria; Humans; Isoleucine; Leucine; Propionic Acidemia; Valine; Vitamin B 12 Deficiency

2018
A survey of inborn errors of amino acid metabolism and transport in man.
    Annual review of biochemistry, 1981, Volume: 50

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport; Cystinosis; Female; Glutathione; Glycine; Homocystinuria; Humans; Hydroxyproline; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Phenylalanine; Proline; Serine; Tyrosine; Urea; Valine

1981
[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

8 other study(ies) available for valine and CBS Deficiency

ArticleYear
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.
    Human mutation, 2007, Volume: 28, Issue:10

    Topics: Escherichia coli; Ferredoxin-NADP Reductase; Flavins; Homocystinuria; Humans; Kinetics; Leucine; Methionine; Models, Molecular; Mutation; Phenotype; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Serine; Valine

2007
The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.
    Human mutation, 2000, Volume: 16, Issue:2

    Topics: Alanine; Alleles; Amino Acid Substitution; Catalytic Domain; Cytosine; Enzyme Activation; Gene Expression Regulation; Genetic Variation; Homocystinuria; Hot Temperature; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Mutagenesis, Site-Directed; Mutation, Missense; Oxidoreductases Acting on CH-NH Group Donors; Plasmids; Polymorphism, Genetic; Thymine; Valine

2000
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism.
    Pediatrics, 1976, Volume: 57, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Nutritional Requirements; Phenylalanine; Phenylketonurias; Risk; Tyrosine; Valine

1976
[Dietetics in hereditary enzyme deficiencies].
    La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1970, Feb-26, Volume: 46, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diarrhea, Infantile; Diet Therapy; Galactosemias; Homocystinuria; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine

1970
[Dietetics of amino acid metabolism disorders].
    La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1971, Feb-08, Volume: 47, Issue:7

    Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Histidine; Homocystinuria; Humans; Isoleucine; Leucine; Phenylketonurias; Tryptophan; Tyrosine; Valine

1971
[The inborn errors of metabolism of amino acids].
    Postepy biochemii, 1973, Volume: 19, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Sarcosine; Tyrosine; Valine

1973
[Early diagnosis of congenital metabolic diseases].
    Minerva medica, 1971, Nov-03, Volume: 62, Issue:83

    Topics: Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant, Newborn; Leucine; Lipoproteins; Lysine; Metabolism, Inborn Errors; Phenylketonurias; Time Factors; Valine

1971
[Experiences with a new amino acid analyzer for a rapid analysis].
    Monatsschrift fur Kinderheilkunde, 1970, Volume: 118, Issue:6

    Topics: Amino Acids; Autoanalysis; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Premature, Diseases; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine

1970