cysteine and BCKD Deficiency

cysteine has been researched along with BCKD Deficiency in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19902 (50.00)18.7374
1990's2 (50.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Chuang, DT; Chuang, JL; Cox, RP; Fisher, CR1
Chuang, DT; Cox, RP; Fisher, CR; Fisher, CW; Lau, KS; Wynn, RM1
Donnell, GN; Koch, R; Lieberman, E; Shaw, KN1

Other Studies

4 other study(ies) available for cysteine and BCKD Deficiency

ArticleYear
Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
    American journal of human genetics, 1994, Volume: 55, Issue:2

    Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Base Sequence; Cysteine; DNA Mutational Analysis; DNA Primers; Female; Fibroblasts; Humans; Infant; Ketone Oxidoreductases; Male; Maple Syrup Urine Disease; Molecular Sequence Data; Multienzyme Complexes; Mutation; Oligonucleotide Probes; Point Mutation; Promoter Regions, Genetic; Regulatory Sequences, Nucleic Acid; RNA, Messenger; Sequence Deletion; Transfection; Tyrosine

1994
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
A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.
    Biochemical and biophysical research communications, 1991, Jan-31, Volume: 174, Issue:2

    Topics: Acyltransferases; Antisense Elements (Genetics); Base Composition; Base Sequence; Cell Line; Cysteine; DNA Transposable Elements; Exons; Fibroblasts; Humans; Maple Syrup Urine Disease; Molecular Sequence Data; Mutation; Phenylalanine; Polymerase Chain Reaction; Reference Values; Thiamine

1991
Cystathioninuria.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschool; Cysteine; Diet Therapy; Female; Galactosemias; Glycogen; Humans; Infant; Intellectual Disability; Liver Neoplasms; Male; Maple Syrup Urine Disease; Methionine; Middle Aged; Neuroblastoma; Phenylketonurias; Portal Vein; Pyridoxine; Serine; Sulfisoxazole; Tyrosine

1967