tyrosine and Genetic Diseases

tyrosine has been researched along with Genetic Diseases in 15 studies

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19908 (53.33)18.7374
1990's6 (40.00)18.2507
2000's0 (0.00)29.6817
2010's1 (6.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Coats, BS; Langaee, T; McDonough, CW; Shroads, AL; Stacpoole, PW1
FRITZELL, S; JAGENBURG, OR; SCHNUERER, LB1
Groth, CG; Ringdén, O1
Arai, K; Chrousos, GP; DiGeorge, AM; Latronico, AC; Rapaport, R; Tsigos, C1
Al-Dhalimy, M; Finegold, M; Grompe, M; Manning, K; Ou, CN; Overturf, K1
Larochelle, J; Lettre, F; Poudrier, J; Scriver, CR; Tanguay, RM1
Jouanolle, AM; Pinson, S; Plauchu, H; Turlin, B; Yaouanq, J1
Arnold, LA; Hyland, K; Nygaard, TG; Sparagana, SP; Swoboda, KJ; Trugman, JM1
de Kremer Dodelson, R; Depetris-Boldini, C; Galetto, R; Videla, MP1
Laberge, C2
Courville, L; Dagenais, DL; Dagenais, MG1
Laberge, C; Lescault, A1
Seegmiller, JE1

Reviews

3 review(s) available for tyrosine and Genetic Diseases

ArticleYear
Transplantation in relation to the treatment of inherited disease.
    Transplantation, 1984, Volume: 38, Issue:4

    Topics: alpha 1-Antitrypsin Deficiency; Amyloidosis; Bone Marrow Transplantation; Fabry Disease; Gaucher Disease; Genetic Diseases, Inborn; Gout; Granulomatous Disease, Chronic; Hemoglobinopathies; Hemophilia A; Hepatolenticular Degeneration; Humans; Immunologic Deficiency Syndromes; Kidney Transplantation; Leukodystrophy, Metachromatic; Liver Transplantation; Lymphocytes; Metabolism, Inborn Errors; Mucopolysaccharidoses; Nephritis, Hereditary; Niemann-Pick Diseases; Osteopetrosis; Oxalates; Oxalic Acid; Transplantation; Tyrosine; Uremia

1984
Population genetics and health care delivery: the Quebec experience.
    Advances in human genetics, 1976, Volume: 6

    Topics: Birth Rate; Consanguinity; Ethnology; Female; Gene Frequency; Genes, Lethal; Genetic Counseling; Genetic Diseases, Inborn; Genetics, Population; History, 17th Century; History, 19th Century; History, 20th Century; Humans; Male; Mass Screening; Metabolism, Inborn Errors; Pedigree; Quebec; Transients and Migrants; Tyrosine

1976
Genetic and molecular basis of human hereditary diseases.
    Clinical chemistry, 1967, Volume: 13, Issue:7

    Topics: Amino Acid Metabolism, Inborn Errors; Arthritis; Brain Diseases; Genetic Diseases, Inborn; Glycogen Storage Disease; Gout; Histidine; Humans; Metabolism, Inborn Errors; Mutation; Nutrition Disorders; Phenylketonurias; Tyrosine

1967

Trials

1 trial(s) available for tyrosine and Genetic Diseases

ArticleYear
Haplotype variations in glutathione transferase zeta 1 influence the kinetics and dynamics of chronic dichloroacetate in children.
    Journal of clinical pharmacology, 2015, Volume: 55, Issue:1

    Topics: Acetone; Adolescent; Adult; Aminolevulinic Acid; Child; Child, Preschool; Dichloroacetic Acid; Double-Blind Method; Female; Genetic Diseases, Inborn; Glutathione Transferase; Haplotypes; Humans; Infant; Kinetics; Male; Maleates; Mitochondrial Diseases; Polymorphism, Single Nucleotide; Tyrosine; Young Adult

2015

Other Studies

11 other study(ies) available for tyrosine and Genetic Diseases

ArticleYear
FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM.
    Acta paediatrica, 1964, Volume: 53

    Topics: Child; Chronic Kidney Disease-Mineral and Bone Disorder; Genetic Diseases, Inborn; Genetics; Humans; Infant; Infant, Newborn; Kidney Diseases; Kidney Tubules; Liver Cirrhosis; Metabolic Diseases; Nephrosis; Phenylpyruvic Acids; Proteins; Renal Aminoacidurias; Rickets; Spleen; Tyrosine; Vitamin D

1964
A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome.
    The Journal of clinical endocrinology and metabolism, 1995, Volume: 80, Issue:7

    Topics: Adenine; Adolescent; Adult; Amino Acid Sequence; Base Sequence; Cell Membrane; Cysteine; DNA; DNA Primers; Female; Genes, Recessive; Genetic Carrier Screening; Genetic Diseases, Inborn; Glucocorticoids; Guanine; Homozygote; Humans; Male; Middle Aged; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Protein Structure, Secondary; Receptors, Corticotropin; Syndrome; Tyrosine

1995
Ex vivo hepatic gene therapy of a mouse model of Hereditary Tyrosinemia Type I.
    Human gene therapy, 1998, Feb-10, Volume: 9, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Base Sequence; Cell Survival; Cell Transplantation; Cells, Cultured; Cyclohexanones; Disease Models, Animal; DNA, Complementary; Enzyme Inhibitors; Female; Genetic Diseases, Inborn; Genetic Therapy; Humans; Hydrolases; Liver; Male; Mice; Molecular Sequence Data; Nitrobenzoates; Tyrosine

1998
Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.
    Molecular genetics and metabolism, 1998, Volume: 64, Issue:2

    Topics: Acute Disease; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chronic Disease; Female; Genetic Diseases, Inborn; Genotype; Heterozygote; Homozygote; Humans; Hydrolases; Infant; Infant, Newborn; Liver; Mutation; Pedigree; Tyrosine

1998
Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.
    Journal of medical genetics, 1998, Volume: 35, Issue:11

    Topics: Adult; Amino Acid Substitution; Cysteine; Female; Genetic Diseases, Inborn; Genetic Heterogeneity; Hemochromatosis; Humans; Iron Overload; Male; Middle Aged; Tyrosine

1998
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
    Journal of inherited metabolic disease, 1999, Volume: 22, Issue:3

    Topics: Administration, Oral; Dopamine; Dystonia; Genetic Diseases, Inborn; GTP Cyclohydrolase; Heterozygote; Humans; Phenylalanine; Tyrosine

1999
Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: relevant changes with NTBC treatment.
    Journal of inherited metabolic disease, 1999, Volume: 22, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Coproporphyrins; Cyclohexanones; Enzyme Inhibitors; Female; Genetic Diseases, Inborn; Humans; Hydrolases; Nitrobenzoates; Tyrosine

1999
A cost-benefit analysis of the Quebec Network of Genetic Medicine.
    Social science & medicine (1982), 1985, Volume: 20, Issue:6

    Topics: Biomedical Research; Cost-Benefit Analysis; Female; Genetic Diseases, Inborn; Genetic Techniques; Genetic Testing; Humans; Hypothyroidism; Infant; Infant, Newborn; Phenylketonurias; Pregnancy; Quebec; Tay-Sachs Disease; Tyrosine

1985
Genetics of French-Canadians.
    Birth defects original article series, 1974, Volume: 10, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Canada; Consanguinity; Delivery of Health Care; Demography; France; Gene Frequency; Genetic Diseases, Inborn; Genetics, Population; Humans; Mucopolysaccharidosis IV; Socioeconomic Factors; Tyrosine

1974
[In vitro study of hepatic adenyl cyclase in cases of hereditary tyrosinemia].
    L'union medicale du Canada, 1974, Volume: 103, Issue:12

    Topics: Adenosine Triphosphate; Adenylyl Cyclase Inhibitors; Adenylyl Cyclases; Genetic Diseases, Inborn; Humans; In Vitro Techniques; Liver; Tyrosine

1974
Screening for inborn errors of metabolism. Report of a WHO Scientific Group.
    World Health Organization technical report series, 1968, Volume: 401

    Topics: Adrenal Hyperplasia, Congenital; Amino Acid Metabolism, Inborn Errors; Carrier State; Ceruloplasmin; Cholinesterases; Cystic Fibrosis; Diagnostic Services; Female; Galactosemias; Genetic Diseases, Inborn; Hepatolenticular Degeneration; Humans; Infant; Infant, Newborn; Male; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias; Porphyrias; Tyrosine; World Health Organization

1968