tyrosine and succinylacetone

tyrosine has been researched along with succinylacetone in 58 studies

Research

Studies (58)

Timeframe	Studies, this research(%)	All Research%
pre-1990	24 (41.38)	18.7374
1990's	21 (36.21)	18.2507
2000's	4 (6.90)	29.6817
2010's	9 (15.52)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Hjalmarson, O; Holme, E; Lindstedt, S; Lock, EA; Strandvik, B	1
Klusácek, D; Pintera, J; Valík, D	1
Brooks, SS; Buchanan, DN; Collins, JC; Erickson, RP; Gluecksohn-Waelsch, S; Thoene, JG	1
Boynton, SB; Carter, BE; Connor, E; Fowler, B; Roth, KS; Wyss, PA	1
Bloomer, JR; Freese, D; Glock, M; Pascual-Leone, A; Payne, W; Rank, JM; Sharp, H	1
Halvorsen, S; Kvittingen, EA; Steen-Johnsen, J; Søvik, O	1
Carter, BE; Moses, LC; Roth, KS; Spencer, PD	1
Henderson, M; Jakobs, C; Kvittingen, EA; Lilford, R; Stellaard, F	1
Fujita, H; Kappas, A; Sassa, S	1
Bain, MD; Bingham, P; Chalmers, RA; Jones, M; Purkiss, P; Stacey, TE	1
Ascher, N; Buist, NR; Freese, DK; Najarian, JS; Ramnaraine, ML; Sharp, HL; Terry, AB; Tuchman, M; Ulstrom, RA; Whitley, CB	1
Berger, R; Schierbeek, H	1
Kvittingen, EA; Leonard, JV; Pettit, BR	1
Bergan, A; Flatmark, A; Gjone, E; Halvorsen, S; Jellum, E; Kvittingen, EA; Schrumpf, E; Stokke, O; Sødal, G	1
Medow, MS; Moses, LC; Roth, KS; Spencer, PD	1
de Jong, AP; Dorland, L; Jakobs, C; Kok, RM; Wadman, SK; Wikkerink, B	1
Brodtkorb, E; Kvittingen, EA	1
Ascher, N; Bloomer, JR; Freese, DK; Ramnaraine, ML; Sharp, HL; Tuchman, M	1
Kappas, A; Manabe, S; Sassa, S	1
King, GS; Kvittingen, EA; Leonard, JV; Pettit, BR	1
King, GS; MacKenzie, F; Pettit, BR	1
King, GS; Leonard, JV; MacKenzie, F; Pettit, BR	1
Gitzelmann, R; Kvittingen, EA; Steinmann, B; Stokke, O	1
Bowers, LD; Fregien, KD; Krivit, W; Ramnaraine, ML; Tuchman, M; Whitley, CB	1
Kappas, A; Sassa, S	2
Berger, R; Bruinvis, L; Cartigny, B; Divry, P; Duran, M; Farriaux, JP; Ketting, D; Leonard, JV; Smit, GP; Steinmann, B; van Sprang, FJ; Wadman, SK	1
Gagné, R; Grenier, A; Laberge, C; Lescault, A; Mamer, O	1
Dallaire, L; Gagné, R; Grenier, A; Laberge, C; Lescault, A; Mélançon, SB	1
Lindblad, B; Steen, G	1
Fällström, SP; Lindblad, B; Steen, G	1
Berger, R; Duran, M; Ketting, D; Smit, GP; Stoker-de Vries, SA; Wadman, SK	1
Gagné, R; Grenier, A; Laberge, C; Lescault, A	1
Baekmark, UB; Brandt, NJ; Christensen, E; Gregersen, N; Hjeds, H; Jacobsen, BB; Pedersen, JB	1
al-Dhalimy, M; Finegold, M; Grompe, M; Kennaway, NG; Lindstedt, S; Ou, CN; Papaconstantinou, J; Torres-Ramos, CA	1
Castro, M; Díaz, M; Gangoiti, J; García, MJ; Medina, E; Merinero, B; Pérez-Cerdá, C; Sanz, P; Ugarte, M	1
Fernández-Cañón, JM; Peñalva, MA	1
Beukeveld, GJ; Bijsterveld, K; Schierbeek, H; Smit, GP; van Faassen, H; van Spronsen, FJ; Venekamp-Hoolsema, EE; Wolthers, BG	1
Biasucci, G; Giuffré, B; La Grutta, S; Riva, E	1
Bensoussan, AL; Blanchard, H; Bruneau, N; LaBerge, JM; Luks, FI; St-Vil, D	1
Boynton, S; Chu, J; Roth, KS; Wyss, PA	1
Cederbaum, S; Gagné, R; Grenier, A; Jakobs, C; Laberge, C; Tanguay, RM	1
Laval, F; Prieto-Alamo, MJ	1
Lettre, F; Poudrier, J; St-Louis, M; Tanguay, RM	1
Barkaoui, E; Bernard, O; Debray, D; Habès, D; Ogier, H	1
Frommhold, D; Hoffmann, GF; Mayatepek, E; Schulze, A	1
Bijleveld, CM; Pierik, LJ; van Dael, CM; van Spronsen, FJ	1
Henderson, GN; Jia, M; Liu, H; Stacpoole, PW; Zolodz, MD	1
Cassiman, D; Holme, E; Jaeken, J; Kvittingen, EA; Zeevaert, R	1
Jitraruch, S; Leelaudomlipi, S; Sornmayura, P; Sriphojanart, S; Teeraratkul, S; Treepongkaruna, S; Viengteerawat, S; Wattanasirichaigoon, D	1
Boenzi, S; Della Bona, ML; Dionisi-Vici, C; la Marca, G; Malvagia, S; Martinelli, D; Materazzi, S	1
Benoist, JF; Davit-Spraul, A; Garcia Segarra, N; Grenèche, MO; Imbard, A; Ogier de Baulny, H; Roche, S	1
Shah, I	1
Chen, F; Han, C; Liu, Y; Peng, W; Ren, C; Xie, D; Zhi, T; Zhou, Z	1
Chen, R; Dou, LM; Fang, LJ; Li, LT; Lu, W; Wang, JS; Wang, XH; Zhao, J	1
Al-Qabandi, W; Atwal, PS; Blackburn, PR; Bordner, AJ; Chaiteerakij, R; Clark, KJ; Ekker, SC; El-Youssef, M; Gavrilov, DK; Giama, NH; Graham, RP; Grompe, M; Hickey, RD; Klee, EW; Kraft, DL; Lindor, NM; McCormick, JB; Milliner, DS; Nace, RA; Oglesbee, D; Radulovic, M; Roberts, LR; Scott, CR; Torbenson, MS; Tortorelli, S	1
Berthier, MT; Giguère, Y	1
Burgerhof, JGM; Daly, A; de Blaauw, P; Heiner-Fokkema, MR; Kienstra, NS; MacDonald, A; Rodenburg, IL; Santra, S; van de Krogt, J; van Ginkel, WG; van Reemst, HE; van Spronsen, FJ	1

Reviews

1 review(s) available for tyrosine and succinylacetone

Article	Year
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update. Advances in experimental medicine and biology, 2017, Volume: 959 Topics: Alleles; Heptanoates; Humans; Infant, Newborn; Mutation; Neonatal Screening; Quebec; Tyrosine; Tyrosinemias	2017

Trials

1 trial(s) available for tyrosine and succinylacetone

Article	Year
Hematin therapy for the neurologic crisis of tyrosinemia. The Journal of pediatrics, 1991, Volume: 118, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminolevulinic Acid; Heme; Hemin; Heptanoates; Humans; Infant; Liver Transplantation; Male; Tyrosine	1991

Other Studies

56 other study(ies) available for tyrosine and succinylacetone

Article	Year
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet (London, England), 1992, Oct-03, Volume: 340, Issue:8823 Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Acetoacetates; alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Child; Child, Preschool; Cyclohexanones; Erythrocytes; Heptanoates; Humans; Hydroxybenzoates; Infant; Kidney Tubules; Liver; Nitrobenzoates; Phenylalanine; Phosphates; Porphobilinogen Synthase; Proteinuria; Tyrosine	1992
Impaired synthesis of taurine in a patient with tyrosinemia type I during the oral L-methionine loading test. Clinica chimica acta; international journal of clinical chemistry, 1992, Sep-30, Volume: 210, Issue:3 Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Female; Gas Chromatography-Mass Spectrometry; Heptanoates; Humans; Hydrolases; Infant; Male; Methionine; Taurine; Tyrosine	1992
Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities. Biochemical and biophysical research communications, 1992, Aug-31, Volume: 187, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Chromosome Deletion; Disease Models, Animal; Heptanoates; Homozygote; Hydrolases; Kidney; Liver; Mice; Mice, Mutant Strains; Tyrosine	1992
Renal heme metabolism in hereditary tyrosinemia: use of succinylacetone in rat renal tubules. Biochimica et biophysica acta, 1991, Dec-09, Volume: 1070, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cytochrome P-450 Enzyme System; Cytosol; Ferrochelatase; Heme; Heme Oxygenase (Decyclizing); Heptanoates; Kidney Cortex; Kidney Tubules; Male; Models, Biological; Porphyrins; Rats; Rats, Inbred Strains; Tyrosine	1991
Hereditary tyrosinemia of chronic course without rickets and renal tubular dysfunction. Acta paediatrica Scandinavica, 1990, Volume: 79, Issue:11 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chronic Kidney Disease-Mineral and Bone Disorder; Female; Heme; Heptanoates; Humans; Hydrolases; Male; Porphobilinogen Synthase; Thrombocytopenia; Tyrosine	1990
On rat renal aminolevulinate transport and metabolism in experimental Fanconi syndrome. Biochemical medicine and metabolic biology, 1990, Volume: 44, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Animals; Biological Transport, Active; Fanconi Syndrome; Heme; Heptanoates; In Vitro Techniques; Kidney Tubules; Male; Maleates; Microvilli; Porphobilinogen Synthase; Rats; Rats, Inbred Strains; Tyrosine	1990
First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination. Prenatal diagnosis, 1990, Volume: 10, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Heptanoates; Heptanoic Acids; Humans; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Tyrosine	1990
Succinylacetone and delta-aminolevulinic acid dehydratase in hereditary tyrosinemia: immunochemical study of the enzyme. Pediatrics, 1990, Volume: 86, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Electrophoresis, Polyacrylamide Gel; Erythrocytes; Heptanoates; Heptanoic Acids; Humans; Immunohistochemistry; Liver; Liver Transplantation; Male; Porphobilinogen Synthase; Radioimmunoassay; Tyrosine	1990
Dietary treatment eliminates succinylacetone from the urine of a patient with tyrosinaemia type 1. European journal of pediatrics, 1990, Volume: 149, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Female; Heme; Heptanoates; Heptanoic Acids; Humans; Infant; Methionine; Phenylalanine; Tyrosine	1990
Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I. Journal of inherited metabolic disease, 1985, Volume: 8, Issue:1 Topics: alpha-Fetoproteins; Carcinoma, Hepatocellular; Child, Preschool; Female; Heptanoates; Heptanoic Acids; Humans; Hydrolases; Liver Neoplasms; Liver Transplantation; Tyrosine	1985
Determination of succinylacetone and succinylacetoacetate in physiological samples as the common product 5(3)-methyl-3(5)-isoxazole propionic acid using an isotope dilution method and mass spectrometry. Clinica chimica acta; international journal of clinical chemistry, 1989, Oct-16, Volume: 184, Issue:3 Topics: Acetoacetates; Gas Chromatography-Mass Spectrometry; Heptanoates; Heptanoic Acids; Humans; Isotopes; Isoxazoles; Mass Spectrometry; Nitrogen Isotopes; Oxazoles; Tyrosine	1989
Early prenatal diagnosis of hereditary tyrosinaemia. Lancet (London, England), 1985, May-04, Volume: 1, Issue:8436 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Heptanoates; Humans; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Tyrosine	1985
Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction. Journal of inherited metabolic disease, 1986, Volume: 9, Issue:2 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; beta 2-Microglobulin; Female; Glycosuria; Heptanoates; Humans; Kidney Diseases; Kidney Tubules; Liver Diseases; Liver Transplantation; Phosphates; Tyrosine	1986
Effects of succinylacetone on the uptake of sugars and amino acids by brush border vesicles. Kidney international, 1988, Volume: 34, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport; Carbohydrate Metabolism; Fanconi Syndrome; Heptanoates; Heptanoic Acids; Kidney Tubules, Proximal; Male; Microvilli; Rats; Rats, Inbred Strains; Sodium; Tyrosine	1988
Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I. Clinica chimica acta; international journal of clinical chemistry, 1988, Feb-15, Volume: 171, Issue:2-3 Topics: Amino Acid Metabolism, Inborn Errors; Electrons; Female; Gas Chromatography-Mass Spectrometry; Heptanoates; Heptanoic Acids; Humans; Pregnancy; Radioisotope Dilution Technique; Tyrosine	1988
The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase. Scandinavian journal of clinical and laboratory investigation. Supplementum, 1986, Volume: 184 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Genetic Carrier Screening; Genetic Variation; Heptanoates; Humans; Hydrolases; Male; Pregnancy; Prenatal Diagnosis; Tyrosine	1986
Contribution of extrahepatic tissues to biochemical abnormalities in hereditary tyrosinemia type I: study of three patients after liver transplantation. The Journal of pediatrics, 1987, Volume: 110, Issue:3 Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Child, Preschool; Female; Heptanoates; Humans; Infant; Liver Transplantation; Male; Porphobilinogen Synthase; Tyrosine	1987
Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts. The Journal of experimental medicine, 1985, Sep-01, Volume: 162, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Glutathione; Heptanoates; Heptanoic Acids; Humans; Hydrogen-Ion Concentration; Hydrolases; Lysine; Porphobilinogen Synthase; Spectrophotometry, Ultraviolet; Tyrosine	1985
Concentrations of succinylacetone after homogentisate and tyrosine loading in healthy individuals with low fumarylacetoacetase activity. Clinica chimica acta; international journal of clinical chemistry, 1985, Nov-15, Volume: 152, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Erythrocytes; Female; Fibroblasts; Gas Chromatography-Mass Spectrometry; Genotype; Heptanoates; Heptanoic Acids; Heterozygote; Homogentisic Acid; Homozygote; Humans; Hydrolases; Lymphocytes; Male; Porphobilinogen Synthase; Tyrosine	1985
Neonatal and prenatal diagnosis of hereditary tyrosinaemia. Lancet (London, England), 1983, Jun-04, Volume: 1, Issue:8336 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Heptanoates; Humans; Hydrolases; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Tyrosine	1983
The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone. Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 2 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Gas Chromatography-Mass Spectrometry; Heptanoates; Heptanoic Acids; Humans; Pregnancy; Prenatal Diagnosis; Tyrosine	1984
Prenatal diagnosis of hereditary tyrosinemia. The New England journal of medicine, 1984, Mar-29, Volume: 310, Issue:13 Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Female; Heptanoates; Humans; Infant, Newborn; Pregnancy; Tyrosine	1984
Determination of urinary succinylacetone by capillary gas chromatography. Journal of chromatographic science, 1984, Volume: 22, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Gas Chromatography-Mass Spectrometry; Heptanoates; Heptanoic Acids; Humans; Tyrosine	1984
Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone. The Journal of clinical investigation, 1983, Volume: 71, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cattle; Chick Embryo; Erythrocytes; Heme; Heptanoates; Heptanoic Acids; Humans; In Vitro Techniques; Liver; Mice; Mice, Inbred BALB C; Porphobilinogen Synthase; Species Specificity; Tyrosine	1983
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. Clinica chimica acta; international journal of clinical chemistry, 1983, May-30, Volume: 130, Issue:2 Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Acetoacetates; Amino Acid Metabolism, Inborn Errors; Deuterium; Female; Heptanoates; Heptanoic Acids; Humans; Hydrolases; Infant; Liver; Male; Tyrosine	1983
Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia. Clinica chimica acta; international journal of clinical chemistry, 1982, Aug-04, Volume: 123, Issue:1-2 Topics: Amino Acid Metabolism, Inborn Errors; Heptanoates; Heptanoic Acids; Humans; Methods; Paper; Porphobilinogen Synthase; Tyrosine	1982
Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid. Prenatal diagnosis, 1982, Volume: 2, Issue:3 Topics: Amniotic Fluid; Female; Genes, Recessive; Heptanoates; Heptanoic Acids; Humans; Hydrolases; Liver; Metabolism, Inborn Errors; Pregnancy; Prenatal Diagnosis; Quebec; Tyrosine	1982
Identification of 4,6-dioxoheptanoic acid (succinylacetone), 3,5-dioxooctanedioic acid (succinylacetoacetate) and 4-Oxo-6-hydroxyheptanoic acid in the urine from patients with hereditary tyrosinemia. Biomedical mass spectrometry, 1982, Volume: 9, Issue:10 Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Heptanoates; Heptanoic Acids; Humans; Tyrosine	1982
Succinylacetone inhibits delta-aminolevulinate dehydratase and potentiates the drug and steroid induction of delta-aminolevulinate synthase in liver. Transactions of the Association of American Physicians, 1982, Volume: 95 Topics: 5-Aminolevulinate Synthetase; Amino Acid Metabolism, Inborn Errors; Animals; Chick Embryo; Erythrocytes; Heptanoates; Heptanoic Acids; Humans; Liver; Mice; Mice, Inbred BALB C; Porphobilinogen Synthase; Tyrosine	1982
On the renal tubular damage in hereditary tyrosinemia and on the formation of succinylacetoacetate and succinylacetone. Acta paediatrica Scandinavica, 1981, Volume: 70, Issue:3 Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Child; Heptanoates; Homogentisic Acid; Humans; Infant; Keto Acids; Kidney Diseases; Kidney Tubules; Male; Phenylalanine; Proteinuria; Tyrosine	1981
Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia. Clinica chimica acta; international journal of clinical chemistry, 1981, Jul-18, Volume: 114, Issue:1 Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Fumarates; Heptanoates; Humans; Hydrolases; Infant; Keto Acids; Liver; Male; Tyrosine	1981
["Succinylacetone effect' after oral homogentisate loading]. L'union medicale du Canada, 1981, Volume: 110, Issue:7 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Erythrocytes; Female; Heptanoates; Heptanoic Acids; Homogentisic Acid; Humans; Keto Acids; Male; Porphobilinogen Synthase; Sulfides; Tyrosine	1981
Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia. Clinica chimica acta; international journal of clinical chemistry, 1981, Nov-11, Volume: 116, Issue:3 Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Female; Fumarates; Heptanoates; Heptanoic Acids; Humans; Hydrolases; Infant; Keto Acids; Levulinic Acids; Male; Models, Biological; Tyrosine	1981
Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. Nature genetics, 1995, Volume: 10, Issue:4 Topics: alpha-Fetoproteins; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cyclohexanones; Disease Models, Animal; Enzyme Inhibitors; Female; Heptanoates; Humans; Hydrolases; Liver; Liver Diseases; Liver Neoplasms; Male; Mice; Mice, Inbred C57BL; Nitrobenzoates; Pancreas; RNA, Messenger; Tyrosine	1995
Liver transplantation in nine Spanish patients with tyrosinaemia type I. Journal of inherited metabolic disease, 1995, Volume: 18, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Enzyme Inhibitors; Graft Rejection; Heptanoates; Humans; Infant; Infant, Newborn; Liver Transplantation; Porphobilinogen Synthase; Spain; Treatment Outcome; Tyrosine	1995
Fungal metabolic model for human type I hereditary tyrosinaemia. Proceedings of the National Academy of Sciences of the United States of America, 1995, Sep-26, Volume: 92, Issue:20 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Aspergillus nidulans; Chromatography, High Pressure Liquid; Dioxygenases; Enzyme Inhibitors; Gas Chromatography-Mass Spectrometry; Genes, Fungal; Heptanoates; Homogentisate 1,2-Dioxygenase; Humans; Hydrolases; Models, Genetic; Molecular Sequence Data; Mutation; Open Reading Frames; Oxygenases; Phenylalanine; Restriction Mapping; Sequence Homology, Amino Acid; Tyrosine	1995
Hereditary tyrosinaemia type I: a long-term study of the relationship between the urinary excretions of succinylacetone and delta-aminolevulinic acid. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Child, Preschool; Creatinine; Heptanoates; Humans; Infant; Liver Transplantation; Male; Tyrosine	1993
Tyrosinaemia type Ia without excess of urinary succinylacetone. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Heptanoates; Humans; Tyrosine	1993
[Surgical and metabolic aspects of liver transplantation for tyrosinemia]. Annales de chirurgie, 1993, Volume: 47, Issue:9 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Central Nervous System Diseases; Child; Child, Preschool; Female; Heptanoates; Humans; Infant; Kidney Function Tests; Kidney Transplantation; Liver Failure; Liver Transplantation; Male; Postoperative Care; Preoperative Care; Quebec; Renal Insufficiency; Tyrosine	1993
Tissue distribution of succinylacetone in the rat in vivo: a possible basis for neurotoxicity in hereditary infantile tyrosinemia. Biochimica et biophysica acta, 1993, Oct-20, Volume: 1182, Issue:3 Topics: Animals; Animals, Newborn; Brain; Heme; Heptanoates; Kidney; Liver; Male; Nervous System Diseases; Porphobilinogen Synthase; Porphyrins; Rats; Rats, Sprague-Dawley; Tissue Distribution; Tyrosine	1993
A case of tyrosinaemia type I with normal level of succinylacetone in the amniotic fluid. Prenatal diagnosis, 1996, Volume: 16, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Cells, Cultured; DNA Mutational Analysis; Enzyme Inhibitors; Female; Fetal Diseases; Gas Chromatography-Mass Spectrometry; Heptanoates; Humans; Male; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis; Tyrosine	1996
Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. Proceedings of the National Academy of Sciences of the United States of America, 1998, Oct-13, Volume: 95, Issue:21 Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; DNA; DNA Ligases; Fibroblasts; Heptanoates; Humans; Tyrosine	1998
Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid. Prenatal diagnosis, 1999, Volume: 19, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Genotype; Heptanoates; Heterozygote; Humans; Hydrolases; Mutation; Pedigree; Pregnancy; Prenatal Diagnosis; Tyrosine	1999
[Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 1999, Volume: 6, Issue:5 Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Acute Disease; Amino Acid Metabolism, Inborn Errors; Aminolevulinic Acid; Cyclohexanones; Enzyme Inhibitors; Female; Follow-Up Studies; Heptanoates; Humans; Infant; Infant, Newborn; Liver Failure; Male; Methionine; Nitrobenzoates; Porphobilinogen Synthase; Treatment Outcome; Tyrosine	1999
Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. Clinical chemistry, 2001, Volume: 47, Issue:8 Topics: Blood Specimen Collection; Heptanoates; Humans; Infant, Newborn; Mass Spectrometry; Neonatal Screening; Paper; Porphobilinogen Synthase; Reproducibility of Results; Spectrophotometry; Temperature; Tyrosine; Tyrosinemias	2001
Renal function in tyrosinaemia type I after liver transplantation: a long-term follow-up. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6 Topics: Adolescent; Child; Child, Preschool; Disease Progression; Female; Follow-Up Studies; Glomerular Filtration Rate; Heptanoates; Humans; Infant; Kidney; Kidney Glomerulus; Kidney Tubules; Liver Transplantation; Male; Time Factors; Tyrosine; Tyrosinemias	2005
A GC-MS/MS method for the quantitative analysis of low levels of the tyrosine metabolites maleylacetone, succinylacetone, and the tyrosine metabolism inhibitor dichloroacetate in biological fluids and tissues. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2006, Jun-06, Volume: 837, Issue:1-2 Topics: Acetone; Animals; Blotting, Western; Dichloroacetic Acid; Gas Chromatography-Mass Spectrometry; Heptanoates; Humans; Liver; Male; Maleates; Rats; Sensitivity and Specificity; Tyrosine	2006
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. Orphanet journal of rare diseases, 2009, Dec-15, Volume: 4 Topics: Child; Fibroblasts; Heptanoates; Humans; Hydrolases; Liver; Male; Mutation; Polymerase Chain Reaction; Restriction Mapping; Sequence Analysis, DNA; Tyrosine; Tyrosinemias	2009
Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report. Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2011, Volume: 94, Issue:10 Topics: Asian People; Diet Therapy; Heptanoates; Humans; Hydrolases; Infant; Liver Failure; Liver Transplantation; Living Donors; Male; Mutation; Phenylalanine; Thailand; Treatment Outcome; Tyrosine; Tyrosinemias	2011
LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I. Analytical chemistry, 2012, Jan-17, Volume: 84, Issue:2 Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Biomarkers; Child; Child, Preschool; Chromatography, Liquid; Cyclohexanones; Diet, Protein-Restricted; Drug Monitoring; Enzyme Inhibitors; Heptanoates; Humans; Infant; Infant, Newborn; Kidney; Liver; Methionine; Nitrobenzoates; Phenylalanine; Tandem Mass Spectrometry; Tyrosine; Tyrosinemias	2012
Maternal and fetal tyrosinemia type I. Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3 Topics: Biomarkers; Child Development; Consanguinity; Cyclohexanones; Diet, Protein-Restricted; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Heptanoates; Heredity; Heterozygote; Homozygote; Humans; Hydrolases; Infant; Infant, Newborn; Live Birth; Mutation; Nitrobenzoates; Pedigree; Phenotype; Pregnancy; Tyrosine; Tyrosinemias; Young Adult	2010
Tyrosinemia: a report of three cases from India. Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology, 2013, Volume: 32, Issue:2 Topics: alpha-Fetoproteins; Child, Preschool; Chronic Disease; Female; Hepatomegaly; Heptanoates; Humans; India; Infant; Kidney Diseases; Male; Rickets; Tyrosine; Tyrosinemias	2013
Disruption of fumarylacetoacetate hydrolase causes spontaneous cell death under short-day conditions in Arabidopsis. Plant physiology, 2013, Volume: 162, Issue:4 Topics: Amino Acid Sequence; Arabidopsis; Arabidopsis Proteins; Base Sequence; Cell Death; Cloning, Molecular; Heptanoates; Homogentisate 1,2-Dioxygenase; Hydrolases; Molecular Sequence Data; Mutation; Phenotype; Photoperiod; Plants, Genetically Modified; Seedlings; Tyrosine	2013
[Mutation analysis of FAH gene in patients with tyrosinemia type 1]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2013, Volume: 51, Issue:4 Topics: alpha-Fetoproteins; Amino Acid Sequence; Base Sequence; Child; Child, Preschool; Diarrhea; DNA Mutational Analysis; Exons; Female; Heptanoates; Humans; Hydrolases; Infant; Male; Mutation; Pedigree; Polymerase Chain Reaction; Rickets; Tyrosine; Tyrosinemias	2013
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. Human mutation, 2016, Volume: 37, Issue:10 Topics: Adolescent; Animals; Carcinoma, Hepatocellular; Catalytic Domain; Cell Line, Tumor; Child; Child, Preschool; Disease Models, Animal; Female; Heptanoates; Humans; Hydrolases; Infant; Liver Cirrhosis; Liver Neoplasms; Male; Mice; Mutation, Missense; Pedigree; Sequence Analysis, DNA; Tyrosine; Tyrosinemias	2016
The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients. Nutrients, 2019, Nov-18, Volume: 11, Issue:11 Topics: Adolescent; Adult; Child; Cyclohexanones; Dietary Supplements; Enzyme Inhibitors; Female; Heptanoates; Humans; Linear Models; Male; Nitrobenzoates; Phenylalanine; Tyrosine; Tyrosinemias; Young Adult	2019