cystine and BH4 Deficiency

cystine has been researched along with BH4 Deficiency in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19906 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Jung, EG; Lutz, P; Paweletz, N; Wiest, LG1
Minami, R; Olek, K; Wardenbach, P1
Frimpter, GW1
Barkin, E; Levy, HL1
Antener, I1
Gjessing, LR; Seip, M; Vellan, EJ1

Reviews

1 review(s) available for cystine and BH4 Deficiency

ArticleYear
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

5 other study(ies) available for cystine and BH4 Deficiency

ArticleYear
[Morphological and biochemical investigations of hairs in inborn errors of amino acid metabolism (author's transl)].
    Archives for dermatological research = Archiv fur dermatologische Forschung, 1976, Jul-26, Volume: 256, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystine; Hair; Homocystinuria; Humans; Keratins; Phenylketonurias; Tyrosine

1976
Phenylketonuria in a patient with cystinuria.
    Humangenetik, 1975, Aug-25, Volume: 28, Issue:4

    Topics: Adolescent; Amino Acids; Cystine; Cystinuria; Genes, Recessive; Heterozygote; Homozygote; Humans; Male; Pedigree; Phenylalanine; Phenylketonurias

1975
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
[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
Hair amino acids in cystinosis, homocystinuria, Fölling's disease and tyrosinosis.
    Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:3

    Topics: Amino Acids; Autoanalysis; Citrulline; Cystine; Cystinosis; Female; Hair; Homocysteine; Homocystinuria; Humans; In Vitro Techniques; Male; Metabolic Diseases; Methionine; Methods; Phenylalanine; Phenylketonurias; Proline; Tyrosine

1969