tyrosine has been researched along with Metabolism, Inborn Errors in 99 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 73 (73.74) | 18.7374 |
| 1990's | 19 (19.19) | 18.2507 |
| 2000's | 4 (4.04) | 29.6817 |
| 2010's | 3 (3.03) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Berry, GT; Brucker, WJ; Demirbas, D | 1 |
| Bleijerveld, OB; de Groot, PG; Farndale, RW; Heck, AJ; Kleefstra, T; Preisinger, C; Roest, M; Scholten, A; Urbanus, RT; van der Smagt, JJ; van Holten, TC; Willemsen, MH | 1 |
| Blau, N; Hoffmann, GF; Kühn, AA; Opladen, T | 1 |
| LINDEBOOM, GA; WIENER, JD | 1 |
| Fingerhut, A; Greenlee, C; Janssen, OE; Knuedeler, SD; Moeller, LC; Refetoff, S; Reutrakul, S | 1 |
| Mathews, J; Partington, MW | 1 |
| Finegold, MJ; Weinberg, AG | 1 |
| Groth, CG; Ringdén, O | 1 |
| Katz, AJ | 1 |
| Freese, D | 1 |
| François, J | 1 |
| Alm, J; Larsson, A; Rosenqvist, U | 1 |
| Mamunes, P | 1 |
| Dallaire, L; Gagné, R; Grenier, A; Laberge, C; Lescault, A; Mélançon, SB | 1 |
| Alm, J; Larsson, A | 1 |
| Dussault, JH; Gagné, R; Grenier, A; Laberge, C; Morissette, J | 1 |
| Perlmutter, DH; Teckman, J | 1 |
| Beringer, A; Flandin-Blety, C; Hubert, P; Jan, D; Jouvet, P; Lacaille, F; Laurent, J; Niaudet, P; Poggi, F; Rabier, D | 1 |
| Lambert, M; Qureshi, IA; Rajalakshmi, S; Rao, PM; Sarma, DS; Vasudevan, S | 1 |
| Berger, R; Clayton, PT; Fidler, V; Heymans, HS; Leonard, JV; Smit, GP; Thomasse, Y; van Spronsen, FJ | 1 |
| Brodtkorb, E; Kvittingen, EA; Rootwelt, H | 1 |
| Honnda, K; Inamoto, T; Tanaka, K; Tokunaga, Y; Uemoto, S; Yamaoka, Y | 1 |
| Imamura, T; Isshiki, G; Nakajima, T; Oura, T; Sawada, Y; Shintaku, H | 1 |
| Kumada, S; Okaniwa, M | 1 |
| Mitchell, GA | 1 |
| Kohgo, Y; Ono, M | 1 |
| Beck, M; Blau, N; Matern, D | 1 |
| Möhler, M; Stremmel, W; Wagner, V | 1 |
| Higashi, S; Inoue, T; Kato, H; Kimura, A; Kondo, KH; Kurosawa, T; Nishiyori, A; Okuda, KI; Setoguchi, T; Suzuki, M; Tohma, M; Yoshino, M | 1 |
| Peñalva, MA | 1 |
| Horinouchi, K; Owada, M; Sakiyama, T; Tsuda, M | 1 |
| Christiansen, JS; Jørgensen, JO; Møller, N; Nielsen, S; Pedersen, SB | 1 |
| Hill, GN; Pollard, AC; Robertson, EF | 1 |
| Bougleux, T; Dabizzi, S; Liberati, G; Maffei, C; Rosati, M; Zammarchi, E | 1 |
| Reinecke, CJ | 1 |
| Laberge, C | 1 |
| Centerwall, WR; Chinnock, RF; Goodman, SI; Mace, JW | 1 |
| Dimmick, JE; Hardwick, DF | 1 |
| Bulovich, D; Filipovich, D; Khaĭdukovich, R; Zagorka, S | 1 |
| Lanza, I | 1 |
| Clayton, PT; Hyland, K | 1 |
| Economou-Petersen, E; Guldberg, P; Güttler, F; Henriksen, KF | 1 |
| Hollister, KA; Perez-Atayde, AR; Weinberg, DS; Zerbini, C | 1 |
| Kakinuma, H; Sato, H; Tsuchiya, M; Yokoyama, Y | 1 |
| Halliday, D; Leonard, JV; Thompson, GN; Walter, JH | 1 |
| Allende, H; Boix-Ochoa, J; Infante, D; Margarit, C; Martínez Ibáñez, V; Sanchís, L; Tormo, R | 1 |
| Levy, HL | 1 |
| Leonard, JV; Michalski, A; Taylor, DS | 1 |
| Rigilano, JC; Stevens, MB; Wilson, CC | 1 |
| Kawamura, M | 1 |
| Alper, CA; Donaldson, VH; Klemperer, MR; Pensky, J; Rosen, FS | 1 |
| Buist, NR; Burns, RP; Kennaway, NG | 1 |
| Alexander, WD; Harden, RM; Harrison, MT; Macfarlane, S; Papadopoulos, S | 1 |
| Folkers, K | 1 |
| Buist, NR | 1 |
| Boggs, DE | 1 |
| Panizon, F | 1 |
| Fellman, JH; Jones, RT; Koler, RD; Vanbellinghen, PJ | 1 |
| Baker, AB; Martin, WE; Resch, JA | 1 |
| Hunt, DM; Johnson, DR | 1 |
| Perrone, L | 1 |
| Schmierer, G; Schön, R | 1 |
| Heyne, K | 1 |
| Schmid-Rüter, E | 1 |
| Ambrose, JA | 1 |
| Baerlocher, K; Curtius, HC; Völlmin, JA | 1 |
| Taniguchi, K | 1 |
| Hruban, Z; Jevtic, MM; Thorp, FK | 1 |
| Grenier, A; Laberge, C | 1 |
| Balda, BR; Lukacs, I | 1 |
| Robins, E | 1 |
| Kownacka-Klimek, E | 1 |
| Duckworth, T; McKibbin, B; O'Gorman, L | 1 |
| Seegmiller, JE | 1 |
| Rhodes, BA | 1 |
| Hsia, DY | 1 |
| Folkers, K; Nilsson, JL | 1 |
| Thalhammer, O | 1 |
| Farriaux, JP; Fontaine, G | 1 |
| Bessman, SP | 1 |
| Knoll, E; Scheibenreiter, S; Schmierer, G; Schön, R; Thalhammer, O | 1 |
| Ferrante, L | 1 |
| Houston, IB; Lyon, IC; Veale, AM | 1 |
| De Maegd, M; Van Nevel, C | 1 |
| Yoshida, A | 1 |
| Vanderkamp, H | 1 |
| Berry, H; Light, IJ; Loggie, J; Sutherland, JM | 1 |
| Matthews, DM | 1 |
| Giovannini, M | 1 |
| Jezierska-Schier, A; Kanabus, I; Kanabus, P; Wojnarowski, M | 1 |
| Berger, R; Boyer, M | 1 |
| Berger, R; Broyer, M | 1 |
| Charpentier, C; Leluc, R; Lemonnier, A | 1 |
| Noguchi, T; Tsukada, Y | 1 |
| Woolf, LI | 1 |
| Alexander, WD; Harden, RM; MacFarlane, S; Mason, DK; Papadopoulos, S | 1 |
23 review(s) available for tyrosine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Topics: Fructose; Galactose; Humans; Infant, Newborn; Liver; Liver Diseases; Metabolism, Inborn Errors; Tyrosine | 2018 |
Primary hepatic tumors of childhood.
Topics: Adenocarcinoma; Adenoma; Adolescent; Adult; Bile Duct Neoplasms; Bile Ducts; Carcinoma, Hepatocellular; Child; Child, Preschool; Female; Hemangioma; Hemangiosarcoma; Hepatitis; Hepatitis B; Humans; Hyperplasia; Infant; Liver Cirrhosis, Biliary; Liver Neoplasms; Male; Metabolism, Inborn Errors; Neoplasms, Germ Cell and Embryonal; Prognosis; Sex Factors; Tyrosine | 1983 |
Transplantation in relation to the treatment of inherited disease.
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 |
Intracellular cholestatic syndromes of infancy.
Topics: Bacterial Infections; Bile Acids and Salts; Biopsy, Needle; Cholestasis, Intrahepatic; Fructose; Galactose; Glycogen Storage Disease; Hepatitis; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Liver; Metabolism, Inborn Errors; Prognosis; Syndrome; Tyrosine | 1982 |
Neonatal screening tests.
Topics: Adenosine Deaminase; Anemia, Sickle Cell; Biological Assay; Costs and Cost Analysis; Galactosemias; Histidine; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Tyrosine; United States | 1980 |
Conceptual advances in the pathogenesis and treatment of childhood metabolic liver disease.
Topics: alpha 1-Antitrypsin Deficiency; Child; Gaucher Disease; Hepatolenticular Degeneration; Humans; Liver Diseases; Metabolism, Inborn Errors; Tyrosine | 1995 |
[Progressive neuronal degeneration and childhood cirrhosis].
Topics: Galactosemias; Glycogen Storage Disease Type IV; Hepatolenticular Degeneration; Humans; Infant; Liver Cirrhosis; Metabolism, Inborn Errors; Peripheral Nervous System Diseases; Tyrosine | 1995 |
[Liver cirrhosis associated with metabolic disorders].
Topics: alpha 1-Antitrypsin; alpha 1-Antitrypsin Deficiency; Galactosemias; Glycogen Storage Disease; Hemochromatosis; Hepatolenticular Degeneration; Humans; Liver Cirrhosis; Metabolism, Inborn Errors; Tyrosine | 1995 |
[Hereditary liver diseases. Recent molecular genetic aspects].
Topics: alpha 1-Antitrypsin; Animals; Bilirubin; Cholestasis, Intrahepatic; Cystic Fibrosis; Disease Models, Animal; Genetic Therapy; Hepatolenticular Degeneration; Humans; Jaundice, Chronic Idiopathic; Liver Diseases; Metabolism, Inborn Errors; Molecular Biology; Tyrosine | 1998 |
A fungal perspective on human inborn errors of metabolism: alkaptonuria and beyond.
Topics: Alkaptonuria; Animals; Aspergillus nidulans; Genes, Fungal; Humans; Metabolism, Inborn Errors; Models, Chemical; Mutation; Phenylalanine; Tyrosine | 2001 |
Population genetics and health care delivery: the Quebec experience.
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 |
Metabolic cirrhoses of infancy and early childhood.
Topics: Amino Acid Metabolism, Inborn Errors; Cystic Fibrosis; Cystinosis; Fructose Intolerance; Galactosemias; Genetics, Medical; Glycogen Storage Disease Type IV; Hepatolenticular Degeneration; Humans; Iatrogenic Disease; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Liver; Liver Cirrhosis; Metabolism, Inborn Errors; Mucopolysaccharidoses; Niemann-Pick Diseases; Polycystic Kidney Diseases; Tyrosine | 1976 |
Hereditary tyrosinaemia.
Topics: Aminolevulinic Acid; Central Nervous System Diseases; Genes, Recessive; Humans; Hydrolases; Metabolism, Inborn Errors; Tyrosine | 1990 |
Nutritional therapy for selected inborn errors of metabolism.
Topics: Glycogen Storage Disease Type I; Humans; Metabolism, Inborn Errors; Microbodies; Multiple Carboxylase Deficiency; Nutritional Physiological Phenomena; Research; Tyrosine; Urea | 1989 |
The eye and inherited metabolic disease: a review.
Topics: Abetalipoproteinemia; Amino Acid Metabolism, Inborn Errors; Eye Diseases; Homocystinuria; Humans; Metabolism, Inborn Errors; Ornithine; Tyrosine | 1988 |
Detection of inborn errors of metabolism.
Topics: Amino Acids; Amniocentesis; Calcium; Chromatography; Copper; Creatinine; Erythrocytes; Female; Fetal Diseases; Glycosaminoglycans; Humans; Indoles; Infant, Newborn; Keto Acids; Leukocytes; Mass Screening; Metabolism, Inborn Errors; Methods; Oxalates; Phenylketonurias; Pregnancy; Pyruvates; Tyrosine; Urine | 1971 |
[Molecular biologic aspects in dermatology demonstrated by some hereditary enzyme defects].
Topics: Albinism; Alkaptonuria; Anemia, Sickle Cell; Chromosomes; Hartnup Disease; Humans; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Models, Chemical; Molecular Biology; Phenylalanine; Phenylketonurias; Porphyrias; Skin Diseases; Tyrosine | 1968 |
The measurement of phenylalanine and tyrosine in blood.
Topics: Adult; Biological Assay; Child, Preschool; Fluorometry; Humans; Indicators and Reagents; Infant; Infant, Newborn; Metabolism, Inborn Errors; Methods; Microchemistry; Middle Aged; Naphthalenes; Nitroso Compounds; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
[Tyrosinosis].
Topics: Deficiency Diseases; Humans; Infant; Infant, Newborn; Liver Cirrhosis; Metabolism, Inborn Errors; Phenylalanine; Pyruvate Oxidase; Tyrosine | 1969 |
Genetic and molecular basis of human hereditary diseases.
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 |
The circulating iodotyrosines.
Topics: Animals; Chromatography, Paper; Humans; Intestinal Absorption; Iodine; Iodoproteins; Kidney; Liver; Lymph; Metabolism, Inborn Errors; Protein Binding; Thyroid Gland; Thyroid Hormones; Thyroiditis; Thyroxine-Binding Proteins; Tyrosine | 1968 |
Biochemical factors in mental retardation.
Topics: 5-Hydroxytryptophan; Animals; Brain Chemistry; Diet Therapy; Female; Guinea Pigs; Haplorhini; Humans; Infant; Intellectual Disability; Intelligence Tests; Male; Metabolism, Inborn Errors; Monoamine Oxidase; Phenylalanine; Phenylketonurias; Rats; Serotonin; Tryptophan; Tyrosine | 1967 |
[Coenzyme Q regarded as a vitamin].
Topics: Amino Acids; Animals; Avitaminosis; Chemical Phenomena; Chemistry; Dietetics; Haplorhini; Humans; Lipid Metabolism; Metabolism, Inborn Errors; Rabbits; Rats; Tyrosine; Ubiquinone | 1970 |
2 trial(s) available for tyrosine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
The prophylactic use of folic acid in neonatal hypertyrosinemia.
Topics: Behavior; Chromatography; Folic Acid; Humans; Infant, Newborn; Infant, Premature, Diseases; Metabolic Diseases; Metabolism, Inborn Errors; Placebos; Tyrosine | 1967 |
The effect of long-term pharmacological antilipolysis on substrate metabolism in growth hormone (GH)-substituted GH-deficient adults.
Topics: Adult; Body Composition; Cross-Over Studies; Double-Blind Method; Drug Administration Schedule; Female; Growth Hormone; Hormones; Human Growth Hormone; Humans; Hypolipidemic Agents; Lipoprotein Lipase; Lipoproteins; Male; Metabolism, Inborn Errors; Middle Aged; Phenylalanine; Pyrazines; Tyrosine | 2002 |
74 other study(ies) available for tyrosine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Targeted phosphotyrosine profiling of glycoprotein VI signaling implicates oligophrenin-1 in platelet filopodia formation.
Topics: Blood Platelets; Case-Control Studies; Child; Collagen; Cytoskeletal Proteins; GTPase-Activating Proteins; Hemostasis; Humans; Immunoprecipitation; Male; Mass Spectrometry; Metabolism, Inborn Errors; Nuclear Proteins; P-Selectin; Phosphorylation; Platelet Adhesiveness; Platelet Function Tests; Platelet Glycoprotein GPIIb-IIIa Complex; Platelet Membrane Glycoproteins; Proteomics; Pseudopodia; Signal Transduction; Stress, Mechanical; Time Factors; Tyrosine | 2013 |
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.
Topics: Administration, Oral; Adult; Biopterins; Diagnosis, Differential; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Psychomotor Disorders; Tyrosine | 2013 |
THE POSSIBLE OCCURRENCE OF TWO INBORN ERRORS OF IODINE METABOLISM IN ONE PATIENT.
Topics: Adolescent; Child; Congenital Hypothyroidism; Diiodotyrosine; Electrophoresis; Goiter; Humans; Iodides; Iodine; Metabolism, Inborn Errors; Thyroglobulin; Thyroid Function Tests; Thyroxine; Triiodothyronine; Tyrosine; Urine | 1964 |
Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide.
Topics: Adolescent; Amino Acid Substitution; Animals; Female; Histidine; Humans; Metabolism, Inborn Errors; Mutation; Oocytes; Pedigree; Protein Sorting Signals; Recombinant Proteins; RNA, Messenger; Thyroid Function Tests; Thyroid Gland; Thyroxine-Binding Proteins; Tyrosine; Xenopus | 2004 |
Diagnostic procedures in the evaluation of hepatic diseases. Metabolic errors.
Topics: Adolescent; Adult; alpha 1-Antitrypsin Deficiency; Child; Fructose Intolerance; Galactosemias; Hepatolenticular Degeneration; Humans; Infant, Newborn; Liver Diseases; Metabolism, Inborn Errors; Phenotype; Tyrosine | 1983 |
Metabolic disorders and corneal changes.
Topics: Amino Acid Metabolism, Inborn Errors; Amyloidosis; Cornea; Corneal Dystrophies, Hereditary; Dysautonomia, Familial; Fabry Disease; Glycogen Storage Disease; Humans; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Mucolipidoses; Mucopolysaccharidoses; Tyrosine | 1981 |
Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines.
Topics: Amino Acid Metabolism, Inborn Errors; Cost-Benefit Analysis; Galactosemias; Histidine; Homocystinuria; Humans; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Sweden; Tyrosine | 1982 |
Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid.
Topics: Amniotic Fluid; Female; Genes, Recessive; Heptanoates; Heptanoic Acids; Humans; Hydrolases; Liver; Metabolism, Inborn Errors; Pregnancy; Prenatal Diagnosis; Quebec; Tyrosine | 1982 |
Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979.
Topics: Evaluation Studies as Topic; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Sweden; Tyrosine | 1981 |
[Hereditary metabolic diseases in Quebec: blood screening].
Topics: Congenital Hypothyroidism; Humans; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Quebec; Tyrosine | 1980 |
Liver transplantation in children with inherited metabolic disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Child; Child, Preschool; Follow-Up Studies; Graft Survival; Humans; Hyperoxaluria; Liver Transplantation; Metabolism, Inborn Errors; Time Factors; Tyrosine; Urea | 1995 |
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria.
Topics: Adenine Nucleotides; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Liver; Metabolism, Inborn Errors; Nucleotides; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Tyrosine; Uracil Nucleotides; Urea | 1995 |
Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment.
Topics: Cause of Death; Health Surveys; Humans; International Cooperation; Metabolism, Inborn Errors; Prognosis; Regression Analysis; Survival Analysis; Tyrosine | 1994 |
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
Topics: Base Sequence; Female; Gene Frequency; Genes, Recessive; Genome, Human; Humans; Hydrolases; Male; Metabolism, Inborn Errors; Molecular Sequence Data; Mutagenesis; Mutation; Polymerase Chain Reaction; Sequence Analysis; Tyrosine | 1994 |
Living-related liver transplantation for inborn errors of metabolism.
Topics: Adolescent; Adult; Child; Child, Preschool; Fathers; Female; Glycogen Storage Disease Type IV; Hepatolenticular Degeneration; Humans; Infant; Liver Transplantation; Male; Metabolism, Inborn Errors; Mothers; Porphyria, Hepatoerythropoietic; Survival Rate; Tissue Donors; Tyrosine | 1994 |
Experimental research on a fetal treatment for tetrahydrobiopterin deficiency.
Topics: Adrenal Glands; Animals; Biopterins; Corpus Striatum; Dopamine; Epinephrine; Female; Fetal Blood; Guinea Pigs; Hypoxanthines; Infusions, Intravenous; Liver; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Norepinephrine; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1993 |
Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione and 2-(2-chloro-4-methanesulfonylbenzoyl)-cyclohexane-1,3-dione.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Animals; Cyclohexanones; Enzyme Inhibitors; Humans; Lethal Dose 50; Metabolism, Inborn Errors; Nitrobenzoates; Phenylpropionates; Phenylpyruvic Acids; Rats; Tyrosine | 1996 |
Tetrahydrobiopterin induced neonatal tyrosinaemia.
Topics: Alcohol Oxidoreductases; Biopterins; Case-Control Studies; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Phosphorus-Oxygen Lyases; Tyrosine | 1996 |
Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis.
Topics: Amino Acid Metabolism, Inborn Errors; Bile Acids and Salts; Biopsy; Cholestasis; Gas Chromatography-Mass Spectrometry; Humans; Immunoblotting; Infant; Japan; Liver; Male; Metabolism, Inborn Errors; Oxidoreductases; Tyrosine | 1998 |
Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency.
Topics: Child; Cysteine; DNA Mutational Analysis; Female; Humans; Metabolism, Inborn Errors; Mutation, Missense; Purine-Nucleoside Phosphorylase; Severe Combined Immunodeficiency; Tyrosine | 2002 |
Evaluation of a state-wide neonatal screening programme.
Topics: alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Australia; Evaluation Studies as Topic; Follow-Up Studies; Galactosemias; Histidine; Humans; Hypothyroidism; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 1979 |
[Blood tyrosine levels in the newborn. I. Results of the study of 172 premature infants subdivided into groups according to weight, gestational age and prematurity index].
Topics: Birth Weight; Female; Gestational Age; Humans; Infant, Newborn; Infant, Premature, Diseases; Male; Metabolism, Inborn Errors; Tyrosine | 1978 |
Screening for inborn errors of metabolism: a multiple test program.
Topics: Amino Acid Metabolism, Inborn Errors; Ferric Compounds; Humans; Intellectual Disability; Mathematics; Metabolism, Inborn Errors; Nitroso Compounds; Phenylketonurias; Tyrosine | 1978 |
The child with an unusual odor. A clinical resumé.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Choline; Diabetes Mellitus, Type 1; Diabetic Ketoacidosis; Humans; Infant; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Odorants; Phenylketonurias; Tyrosine | 1976 |
[Congenital disorders of metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Fructose Intolerance; Glutathione Reductase; Humans; Infant; Male; Metabolism, Inborn Errors; Tyrosine | 1975 |
[Multiple screening tests for hereditary metabolic diseases. Clinical problems and questions of interpretation].
Topics: Genotype; Histidine; Humans; Metabolism, Inborn Errors; Methods; Phenylalanine; Tyrosine | 1975 |
Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.
Topics: 5-Hydroxytryptophan; Aromatic-L-Amino-Acid Decarboxylases; Child; Child, Preschool; Chromatography, High Pressure Liquid; Dopa Decarboxylase; Gas Chromatography-Mass Spectrometry; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Levodopa; Liver; Metabolism, Inborn Errors; Reference Values; Tyrosine | 1992 |
Molecular basis for nonphenylketonuria hyperphenylalaninemia.
Topics: Base Sequence; Exons; Female; Haplotypes; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Molecular Sequence Data; Oligonucleotide Probes; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Tyrosine | 1992 |
DNA ploidy abnormalities in the liver of children with hereditary tyrosinemia type I. Correlation with histopathologic features.
Topics: alpha-Fetoproteins; Child, Preschool; Chronic Disease; DNA; Fatty Liver; Flow Cytometry; Humans; Immunohistochemistry; Infant; Liver; Liver Cirrhosis; Metabolism, Inborn Errors; Ploidies; Reticulin; Tyrosine | 1992 |
Determination of creatinine and ultraviolet-absorbing amino acids and organic acids in urine by reversed-phase high-performance liquid chromatography.
Topics: Acidosis; Acids; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, High Pressure Liquid; Creatinine; Humans; Indicators and Reagents; Infant, Newborn; Metabolism, Inborn Errors; Oculocerebrorenal Syndrome; Phenylketonurias; Spectrophotometry, Ultraviolet; Tyrosine | 1992 |
In vivo enzyme activity in inborn errors of metabolism.
Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylation; Isotope Labeling; Leucine; Male; Malonates; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Propionates; Radioisotope Dilution Technique; Reference Values; Tyrosine | 1990 |
[New perspectives in liver-based metabolic errors: liver transplantation].
Topics: alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Child; Female; Glycogen Storage Disease Type II; Humans; Hyperlipoproteinemia Type II; Infant, Newborn; Liver; Liver Cirrhosis; Liver Transplantation; Male; Metabolism, Inborn Errors; Tyrosine | 1989 |
State screening for metabolic disorders in newborns.
Topics: Adrenal Hyperplasia, Congenital; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Biotinidase; Congenital Hypothyroidism; Cystic Fibrosis; Galactosemias; Homocystinuria; Humans; Hypothyroidism; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine; United States | 1988 |
[Laboratory examinations for inborn errors of metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Computers; Congenital Hypothyroidism; Galactosemias; Gas Chromatography-Mass Spectrometry; Homocystinuria; Humans; Japan; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 1986 |
Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema.
Topics: Acetates; Alkanes; Alpha-Globulins; Angioedema; Animals; Autoradiography; Chromatography, Gel; Complement System Proteins; Electrophoresis; Esterases; Esters; Glycoproteins; Goats; Humans; Immunodiffusion; Iodine Isotopes; Metabolism, Inborn Errors; Neuraminic Acids; Protein Binding; Radioimmunoassay; Tyrosine | 1971 |
Eye and skin lesions in tyrosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Blister; Corneal Ulcer; Cytoplasm; Diet Therapy; Humans; Metabolism, Inborn Errors; Tyrosine; Tyrosine Transaminase | 1973 |
The influence of the plasma inorganic iodine concentration on thyroid function in dehalogenase deficiency.
Topics: Adult; Cardiomegaly; Goiter; Humans; Hypothyroidism; Iodine; Iodine Radioisotopes; Male; Metabolism, Inborn Errors; Potassium Iodide; Radiography, Thoracic; Resins, Plant; Thyroid Function Tests; Thyroid Gland; Thyroxine; Triiodothyronine; Tyrosine | 1967 |
The potential of coenzyme Q 10 (NSC-140865) in cancer treatment.
Topics: Animals; Antibody Formation; Antineoplastic Agents; Chick Embryo; Cricetinae; Haplorhini; Humans; Lipid Metabolism; Metabolism, Inborn Errors; Mice; Neoplasms; Peroxides; Phenylalanine; Rabbits; Rats; Sarcoma 180; Succinate Dehydrogenase; Turkeys; Tyrosine; Ubiquinone | 1974 |
Set of simple side-room urine tests for detection of inborn errors of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Copper; Glycosaminoglycans; Glycosuria; Humans; Infant; Keto Acids; Mass Screening; Metabolism, Inborn Errors; Microscopy; Proline; Tyrosine; Urine | 1968 |
[Diseases due to enzyme defects in childhood. Nosography and recent progress].
Topics: Amino Acid Metabolism, Inborn Errors; Coenzymes; Diet Therapy; Dietary Proteins; Glucose-6-Phosphatase; Glucosidases; Glucosyltransferases; Glycogen Storage Disease; Humans; Hydrocortisone; Metabolism, Inborn Errors; Pyridoxine; Thyroxine; Tyrosine; Vitamin B 12 | 1971 |
Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia.
Topics: Animals; Biopsy; Brain; Child, Preschool; Colorimetry; Enzyme Induction; Erythrocytes; Humans; Hydrocortisone; Liver; Male; Metabolism, Inborn Errors; Methods; Mitochondria; Mixed Function Oxygenases; Muscles; Myocardium; Phenylpyruvic Acids; Rats; Skin; Solubility; Tritium; Tyrosine; Tyrosine Transaminase | 1969 |
Juvenile parkinsonism.
Topics: Adult; Age Factors; Aged; Diagnosis, Differential; Dihydroxyphenylalanine; Dopamine; Humans; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Parkinson Disease; Parkinson Disease, Secondary; Pedigree; Spasm; Tranquilizing Agents; Tremor; Tyrosine; Tyrosine 3-Monooxygenase | 1971 |
An inherited deficiency in noradrenaline biosynthesis in the brindled mouse.
Topics: Age Factors; Amino Acids; Animals; Brain; Brain Chemistry; Carbon Isotopes; Dopamine; In Vitro Techniques; Male; Metabolism, Inborn Errors; Methionine; Mice; Monoamine Oxidase; Myocardium; Norepinephrine; Reserpine; Synaptosomes; Temperature; Tritium; Tyrosine; Tyrosine 3-Monooxygenase | 1972 |
[Diet therapy of some inborn errors of metabolism].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Celiac Disease; Child; Child, Preschool; Histidine; Humans; Hypoglycemia; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Lactose Intolerance; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Phenylketonurias; Proteins; Tyrosine | 1974 |
[Elevated blood tyrosine in newborn infants].
Topics: Ascorbic Acid; Austria; Birth Weight; Humans; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Tyrosine | 1972 |
Ultraviolet fluorescence spectra of the cerebrospinal fluid in tyrosinaemia.
Topics: Diseases in Twins; Female; Fluorometry; Humans; Infant, Newborn; Infant, Premature, Diseases; Male; Metabolism, Inborn Errors; Seizures; Tyrosine | 1972 |
[Screening results for inborn errors of metabolism in Western Europe].
Topics: Denmark; Europe; Evaluation Studies as Topic; France; Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; International Cooperation; Ireland; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Netherlands; Phenylketonurias; Preventive Medicine; Switzerland; Tyrosine; United Kingdom | 1973 |
Analysis of the "report on a cooperative study of various fluorometric procedures and the Guthrie Bacterial Inhibition Assay in the determination of hyperphenylalaninemia" and the significance of this study in the detection, diagnosis, and management of p
Topics: Age Factors; Autoanalysis; Diet Therapy; Fluorometry; Glutamates; Glutamine; Humans; Infant Nutrition Disorders; Infant, Newborn; Infant, Premature; Metabolism, Inborn Errors; Methods; Phenylalanine; Phenylketonurias; Quality Control; Tyrosine | 1973 |
Collective results of mass screening for inborn metabolic errors in eight European countries.
Topics: Belgium; Denmark; France; Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Ireland; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Netherlands; Phenylketonurias; Switzerland; Tyrosine; United Kingdom | 1973 |
Study of metabolic pathways in vivo using stable isotopes.
Topics: Benzoates; Chromatography, Gas; Deuterium; Hippurates; Humans; Isotope Labeling; Leucine; Mass Spectrometry; Metabolism, Inborn Errors; Methods; Tyrosine | 1973 |
[Tyrosinosis].
Topics: Child, Preschool; Female; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Tyrosine | 1973 |
Hereditary tyrosinemia with hyperplasia and hypertrophy of juxtaglomerular apparatus.
Topics: Autopsy; Female; Galactosemias; Humans; Hyperplasia; Hypertrophy; Infant; Juxtaglomerular Apparatus; Kidney; Kidney Diseases; Liver; Metabolism, Inborn Errors; Pancreas; Phenylpyruvic Acids; Tyrosine | 1974 |
[Detection of hereditary metabolic diseases in Quebec].
Topics: Amino Acid Metabolism, Inborn Errors; Fluorometry; Galactosemias; Government Agencies; Humans; Hypothyroidism; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Quebec; Radioimmunoassay; Tyrosine | 1974 |
Catecholamine metabolite excretion in spina bifida.
Topics: Catecholamines; Child; Chromatography, Gas; Creatinine; Humans; Mandelic Acids; Metabolism, Inborn Errors; Phenylacetates; Spectrophotometry; Spinal Dysraphism; Tyrosine; Vanilmandelic Acid | 1969 |
Screening for inborn errors of metabolism. Report of a WHO Scientific Group.
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 |
[Demands on screening tests in inborn anomalies of metabolism].
Topics: Bacillus subtilis; Chromatography; Chromatography, Paper; Culture Media; Galactose; Histidine; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Methionine; Phenylalanine; Tyrosine | 1970 |
[Tyrosinosis or tyrosinemia?].
Topics: Female; Humans; Infant; Infant, Newborn; Liver Diseases; Metabolism, Inborn Errors; Tyrosine | 1972 |
Genetic failure of fetal amino acid "justification": a common basis for many forms of metabolic, nutritional, and "nonspecific" mental retardation.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Developing Countries; Dietary Proteins; Female; Fetus; Heterozygote; Homozygote; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Nutrition Disorders; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Protein Biosynthesis; Tyrosine | 1972 |
[5 years of the Austrian program for the early detection of inborn errors of metabolism. Activity report].
Topics: Amino Acid Metabolism, Inborn Errors; Austria; Child, Preschool; Chromatography, Thin Layer; Diet Therapy; Economics, Medical; Follow-Up Studies; Galactosemias; Glycine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Multiphasic Screening; Phenylketonurias; Proline; Time Factors; Tyrosine | 1972 |
[Enzymopenic endocrinopathies].
Topics: Adrenal Cortex Hormones; Adrenal Gland Diseases; Child; Child, Preschool; Diiodotyrosine; Female; Glucocorticoids; Humans; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Progesterone; Thyroid Diseases; Tyrosine; Water-Electrolyte Balance | 1971 |
Neonatal blood tyrosine elevations.
Topics: Ascorbic Acid; Follow-Up Studies; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Mass Screening; Metabolism, Inborn Errors; Tyrosine | 1971 |
[Hypothyroidism caused by congenital familial defect of iodotyrosine deiodation].
Topics: Female; Humans; Hypothyroidism; Male; Metabolism, Inborn Errors; Molecular Biology; Monoiodotyrosine; Thyroid Hormones; Tyrosine | 1970 |
Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production.
Topics: Amino Acid Sequence; Chromatography, Paper; Electrophoresis; Genetic Code; Glucosephosphate Dehydrogenase; Histidine; Humans; Metabolism, Inborn Errors; Molecular Weight; Peptides; Tyrosine | 1970 |
Clinical anomalies in patients with schizophrenia.
Topics: Ascorbic Acid; Chronic Disease; Dopamine; Humans; Metabolism, Inborn Errors; Methyldopa; Schizophrenia; Thalamus; Tyrosine | 1970 |
Defect in synthesis of epinephrine in premature infants with tyrosinemia.
Topics: Ascorbic Acid; Catecholamines; Epinephrine; Humans; Infant, Newborn; Infant, Premature, Diseases; Metabolism, Inborn Errors; Norepinephrine; Nutritional Requirements; Tyrosine; Vanilmandelic Acid | 1971 |
Experimental approach in chemical pathology.
Topics: Adult; Amblyopia; Animals; Biological Transport; Cystinuria; Dipeptides; Female; Glycine; Hartnup Disease; Humans; Intestinal Absorption; Metabolic Diseases; Metabolism, Inborn Errors; Methionine; Nitrogen; Peptides; Proteins; Smoking; Tyrosine; Vitamin B 12 | 1971 |
[Current views on therapy of some dysmetabolic oligophrenias].
Topics: Child, Preschool; Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 1967 |
[Tyrosinosis].
Topics: Fanconi Syndrome; Humans; Infant; Liver Cirrhosis; Male; Metabolism, Inborn Errors; Pyruvate Oxidase; Tyrosine | 1968 |
[Tyrosinosis].
Topics: Diet Therapy; Humans; Hypertension, Portal; Liver Cirrhosis; Metabolism, Inborn Errors; Phenylalanine; Renal Tubular Transport, Inborn Errors; Rickets; Tyrosine; Vitamin D | 1968 |
[Tyrosinosis].
Topics: Diet Therapy; Humans; Hypertension, Portal; Liver Cirrhosis; Metabolism, Inborn Errors; Phenylalanine; Renal Tubular Transport, Inborn Errors; Rickets; Tyrosine; Vitamin D | 1968 |
[Biochemical and analytical bases of the exploration of phenylalanine metabolism].
Topics: Humans; Intellectual Disability; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 1964 |
[Metabolic disorders of phenylalanine and tyrosine].
Topics: Animals; Humans; Metabolic Diseases; Metabolism, Inborn Errors; Phenylalanine; Tyrosine | 1965 |
Tyrosinosis (inborn hepato-renal dysfunction).
Topics: Acute Kidney Injury; Adolescent; Child; Child, Preschool; Humans; Infant, Newborn; Infant, Newborn, Diseases; Liver Diseases; Metabolism, Inborn Errors; Tyrosine | 1966 |
Iodine excretion in urine, saliva, gastric juice and sweat in dehalogenase deficiency.
Topics: Adult; Chromatography, Ion Exchange; Female; Gastric Juice; Humans; Iodine; Metabolism, Inborn Errors; Saliva; Sweat; Triiodothyronine; Tyrosine | 1966 |