cystathionine and BH4 Deficiency

cystathionine has been researched along with BH4 Deficiency in 11 studies

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-199010 (90.91)18.7374
1990's1 (9.09)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Martin-DeLeon, PA1
al Awadi, SA; Bastaki, L; el Khalifa, MY; Farag, TI; Kasrawi, B; Marafie, MJ; Sam, T; Wahba, RA; Yadav, G1
Harper, PS1
Ampola, MG1
Frimpter, GW1
Martin, JJ; Schlote, W1
Kroll, S; Toussaint, W; Zebisch, P2
Brown, DA; Gaha, TJ; McLeay, AC; Smith, A; Wilcken, B1
Levy, HL1
Brown, DA; Turner, B1

Reviews

3 review(s) available for cystathionine and BH4 Deficiency

ArticleYear
Differential diagnosis and diseases due to enzyme changes.
    Delaware medical journal, 1979, Volume: 51, Issue:5

    Topics: Adrenal Hyperplasia, Congenital; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Biological Transport, Active; Cell Membrane; Cystathionine; Diagnosis, Differential; Enzymes; Feedback; Galactosemias; Glycogen Storage Disease; Humans; Lesch-Nyhan Syndrome; Metabolism, Inborn Errors; Mucopolysaccharidoses; Mutation; Phenylketonurias; Tay-Sachs Disease; Vitamins

1979
Phenylketonuria and other disorders of amino acid metabolism.
    Pediatric clinics of North America, 1973, Volume: 20, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine

1973
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

8 other study(ies) available for cystathionine and BH4 Deficiency

ArticleYear
Aminoacidopathies among institutionalised mentally retarded in Kuwait.
    Clinical genetics, 1992, Volume: 42, Issue:4

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Female; Homocystinuria; Humans; Intellectual Disability; Kuwait; Lysine; Male; Phenylketonurias

1992
Inborn errors of metabolism-the relationship of clinical and biochemical abnormalities.
    Acta Universitatis Carolinae. Medica. Monographia, 1973, Volume: 56

    Topics: Cystathionine; Diseases in Twins; Glutamine; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Lesch-Nyhan Syndrome; Metabolism, Inborn Errors; NADH, NADPH Oxidoreductases; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias

1973
Neuropathological study of aminoacidurias.
    Monographs in human genetics, 1972, Volume: 6

    Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System; Cystathionine; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Maple Syrup Urine Disease; Middle Aged; Phenylketonurias; Renal Tubular Transport, Inborn Errors; Sex Factors; Tyrosine; Urea

1972
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
    Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11

    Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; Cystinosis; Diagnosis, Differential; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine

1972
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
    Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11

    Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Laboratory Techniques; Cystathionine; Cystinosis; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine

1972
Screening for metabolic diseases in New South Wales.
    The Medical journal of Australia, 1973, Jun-09, Volume: 1, Issue:23

    Topics: Australia; Biological Assay; Chromatography, Paper; Cystathionine; Cystinuria; Female; Hartnup Disease; Homocystinuria; Humans; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Seasons

1973
Genetic screening: notes added in proof.
    Advances in human genetics, 1973, Volume: 4

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystathionine; Galactosemias; Genetics, Population; Histidine; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias; Succinates

1973
Amino acid excretion in infancy and early childhood. A survey of 200,000 infants.
    The Medical journal of Australia, 1972, Jan-08, Volume: 1, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Cystathionine; Cystinuria; Glycine; Histidine; Humans; Infant; Lysine; Mass Screening; Phenylketonurias; Proline

1972