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taurine and Metabolism, Inborn Errors

taurine has been researched along with Metabolism, Inborn Errors in 10 studies

Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19907 (70.00)18.7374
1990's2 (20.00)18.2507
2000's0 (0.00)29.6817
2010's1 (10.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Donazzolo, E1
Gucciardi, A1
Mazzier, D1
Peggion, C1
Pirillo, P1
Naturale, M1
Moretto, A1
Giordano, G1
ROE, DA1
Johnson, JL1
Rajagopalan, KV1
Hansen, LK1
Wulff, K1
Dorche, C1
Christensen, E1
Berson, EL1
Tardy, P1
Parvy, P1
Charpentier, C1
Bonnefont, JP1
Saudubray, JM1
Kamoun, P1
Hofmann, AF1
Strandvik, B1
Bousquet, B1
Larregue, M1
Barthélémy, JP1
Dreux, C1
Civatte, J1
Ebadi, MS1
Bostad, R1
Pellegrino, RJ1
Hagge, W1
Brodehl, J1

Reviews

1 review available for taurine and Metabolism, Inborn Errors

ArticleYear
Hereditary and nutritionally induced retinal degenerations: electrophysiologic and biochemical studies.
    Birth defects original article series, 1976, Volume: 12, Issue:3

    Topics: Adolescent; Adult; Animals; Caseins; Child; Cysteine; Electrophysiology; Electroretinography; Humans

1976

Other Studies

9 other studies available for taurine and Metabolism, Inborn Errors

ArticleYear
Improved synthesis of glycine, taurine and sulfate conjugated bile acids as reference compounds and internal standards for ESI-MS/MS urinary profiling of inborn errors of bile acid synthesis.
    Chemistry and physics of lipids, 2017, Volume: 204

    Topics: Bile Acids and Salts; Glycine; Humans; Metabolism, Inborn Errors; Molecular Conformation; Spectromet

2017
NUTRIENT REQUIREMENTS IN PSORIASIS.
    New York state journal of medicine, 1965, Jan-01, Volume: 65

    Topics: Diet; Diet Therapy; Humans; Metabolism, Inborn Errors; Nutritional Requirements; Psoriasis; Taurine

1965
An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency.
    Journal of inherited metabolic disease, 1995, Volume: 18, Issue:1

    Topics: Amino Acids; Biomarkers; Chromatography, High Pressure Liquid; Coenzymes; Cysteine; Humans; Metaboli

1995
Molybdenum cofactor deficiency in two siblings: diagnostic difficulties.
    European journal of pediatrics, 1993, Volume: 152, Issue:8

    Topics: Coenzymes; Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Metalloproteins; Molybd

1993
Attempt at therapy in sulphite oxidase deficiency.
    Journal of inherited metabolic disease, 1989, Volume: 12, Issue:1

    Topics: Cysteine; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Oxidoreductases; Oxidoreductas

1989
Defective bile acid amidation: predicted features of a new inborn error of metabolism.
    Lancet (London, England), 1988, Aug-06, Volume: 2, Issue:8606

    Topics: Bile Acids and Salts; Biliary Tract; Cholic Acid; Cholic Acids; Glycine; Humans; Intestinal Mucosa;

1988
[Pellagroid syndrome with vitamin B6 deficiency. Biological and clinical study of a case].
    Annales de biologie clinique, 1972, Volume: 30, Issue:6

    Topics: Amino Acids; Cystine; Humans; Indoleacetic Acids; Liver Cirrhosis; Male; Metabolism, Inborn Errors;

1972
Impairment of pyridoxal phosphate dependent metabolic reactions in a child with subacute necrotizing encephalopathy.
    Journal of neurology, neurosurgery, and psychiatry, 1969, Volume: 32, Issue:5

    Topics: 5-Hydroxytryptophan; Amines; Autopsy; Basal Ganglia; Brain Diseases; Carboxy-Lyases; Dopamine; Femal

1969
[Changes of renal function in cystinosis. II. Aminoacid clearances].
    Annales paediatrici. International review of pediatrics, 1965, Volume: 205, Issue:6

    Topics: Amino Acids; Aminohippuric Acids; Child; Child, Preschool; Chromatography; Cystinosis; Electrolytes;

1965