valine has been researched along with CBS Deficiency in 11 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 8 (72.73) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 2 (18.18) | 29.6817 |
2010's | 1 (9.09) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Manoli, I; Myles, JG; Venditti, CP | 1 |
Banerjee, R; Gherasim, C; Rosenblatt, DS | 1 |
Meister, A; Wellner, D | 1 |
Goyette, P; Rozen, R | 1 |
Royer, P | 1 |
Brissaud, HE | 1 |
Tomaszewski, L | 1 |
Menne, F | 1 |
Steuer, W | 1 |
Hagge, W; Irtel von Brenndorff, A | 1 |
3 review(s) available for valine and CBS Deficiency
Article | Year |
---|---|
Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
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.
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].
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 |
8 other study(ies) available for valine and CBS Deficiency
Article | Year |
---|---|
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.
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.
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.
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].
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].
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].
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].
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].
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 |