cysteine and BH4 Deficiency

cysteine has been researched along with BH4 Deficiency in 9 studies

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19906 (66.67)18.7374
1990's1 (11.11)18.2507
2000's2 (22.22)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Artuch, R; Brandi, N; Campistol, J; Colomé, C; Lambruschini, N; Sierra, C; Vilaseca, MA1
Chiang, SC; Chien, YH; Chou, SP; Huang, A; Huang, YT; Hwu, WL; Tseng, SS1
Citron, BA; Davis, MD; Greene, CL; Kaufman, S; Milstien, S; Naylor, EW1
Barashnev, IuI; Vel'tishchev, IuE1
Donnell, GN; Koch, R; Lieberman, E; Shaw, KN1
Frimpter, GW1
Fellman, JH; Fujita, TS; Roth, ES1
Jenner, FA1

Reviews

2 review(s) available for cysteine and BH4 Deficiency

ArticleYear
[Early detection of hereditary anomalies of metabolism in children (screening programs)].
    Voprosy okhrany materinstva i detstva, 1975, Volume: 20, Issue:8

    Topics: Age Factors; Cysteine; Galactosemias; Glucosephosphate Dehydrogenase Deficiency; Glutamate Dehydrogenase; Histidine Ammonia-Lyase; Humans; Hyperlipidemias; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Oxalates; Phenylketonurias; Pyruvate Kinase; Respiratory Distress Syndrome, Newborn; Time Factors; UTP-Hexose-1-Phosphate Uridylyltransferase

1975
Aminoacidurias due to inherited disorders of metabolism (first of two parts).
    The New England journal of medicine, 1973, Oct-18, Volume: 289, Issue:16

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Cysteine; Cystine; Disulfides; Female; Homocystinuria; Humans; Infant, Newborn; Lactates; Male; Methionine; Oxidoreductases; Phenylalanine; Phenylketonurias; Pregnancy; Pyruvates; Sulfhydryl Compounds; Sulfites; Sulfur; Tyrosine

1973

Other Studies

7 other study(ies) available for cysteine and BH4 Deficiency

ArticleYear
Plasma thiols and their determinants in phenylketonuria.
    European journal of clinical nutrition, 2003, Volume: 57, Issue:8

    Topics: Adolescent; Cross-Sectional Studies; Cysteine; Female; Folic Acid; Glutathione; Homocysteine; Humans; Male; Methionine; Phenylalanine; Phenylketonurias; Sulfhydryl Compounds; Vitamin B 12

2003
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
    Human mutation, 2004, Volume: 23, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cysteine; DNA Mutational Analysis; Founder Effect; Genetic Testing; Genotype; Humans; Infant, Newborn; Mutation, Missense; Neonatal Screening; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Taiwan

2004
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
    American journal of human genetics, 1993, Volume: 53, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginine; Base Sequence; Biopterins; Cysteine; DNA Mutational Analysis; DNA-Binding Proteins; Gene Expression Regulation, Enzymologic; Hepatocyte Nuclear Factor 1; Hepatocyte Nuclear Factor 1-alpha; Hepatocyte Nuclear Factor 1-beta; Humans; Hydro-Lyases; Infant; Male; Molecular Sequence Data; Nuclear Proteins; Pedigree; Phenylalanine; Phenylketonurias; Point Mutation; Transcription Factors

1993
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
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
Assay, properties and tissue distribution of p-hydroxyphenylpyruvate hydroxylase.
    Biochimica et biophysica acta, 1972, Sep-19, Volume: 284, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Carbon Isotopes; Chemical Phenomena; Chemistry; Cysteine; Enzyme Activation; Female; Fetus; Haplorhini; Humans; Hydrogen-Ion Concentration; Kidney; Liver; Mixed Function Oxygenases; Opossums; Organ Specificity; Oxygen; Phenols; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Rats; Salmon; Species Specificity; Spectrophotometry, Ultraviolet; Tyrosine

1972
Medical research council unit for metabolic studies in psychiatry, Sheffield.
    Psychological medicine, 1973, Volume: 3, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Bipolar Disorder; Catatonia; Circadian Rhythm; Cysteine; Humans; Intellectual Disability; Lithium; Mass Spectrometry; Mental Disorders; Metabolism, Inborn Errors; Periodicity; Phenylketonurias; Sleep; Vasopressins

1973