Compounds > tyrosine

tyrosine and Tyrosinemias

tyrosine has been researched along with Tyrosinemias in 104 studies

Research

Studies (104)

TimeframeStudies, this research(%)All Research%
pre-19901 (0.96)18.7374
1990's4 (3.85)18.2507
2000's31 (29.81)29.6817
2010's51 (49.04)24.3611
2020's17 (16.35)2.80

Authors

AuthorsStudies
Aktuglu Zeybek, AC; Cansever, MS; Erel, O; Iscan, HZ; Kiykim, E; Neselioglu, S; Zubarioglu, T1
Arantes, RR; Kanufre, VC; Miranda, BA; Rocha, ACH; Silva, SC; Vasconcelos-Santos, DV1
Du, CQ; Jin, SJ; Luo, XP1
Arnoux, JB; Bou-Gharios, G; Davison, AS; Gallagher, JA; Hughes, AT; Imrich, R; M, K; Milan, AM; Norman, BP; Olsson, B; Ranganath, LR; Rudebeck, M1
Havranova, A; Imrich, R; Lukacova, O; Penesova, A; Radikova, Z; Ranganath, L; Sedlakova, J; Vlcek, M; Zanova, E; Zatkova, A1
Bou-Gharios, G; Casimir, G; Claes, P; Colemonts-Vroninks, H; De Kock, J; Gallagher, JA; Goyens, P; Heymans, A; Hughes, JH; Lequeue, S; Marcélis, L; Martens, GA; Neuckermans, J; Vanhaecke, T1
Davison, AS; Norman, BP1
Birkeland, E; Haavik, J; Kleppe, R; Patil, S; Szigetvari, PD1
Bou-Gharios, G; Gallagher, JA; Hughes, AT; Hughes, JH; Jarvis, JC; Judd, S; Milan, AM; Ranganath, LR; Sutherland, H; Wilson, PJM1
Barone, H; Bliksrud, YT; Elgen, IB; Ghorbani, S; Haavik, J; Hansen, EV; Kleppe, R; Szigetvari, PD1
Harding, CO; Heiner-Fokkema, MR; Hollak, CEM; Rodenburg, IL; van Ginkel, WG; van Spronsen, FJ1
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, FJ1
Bierau, J; Cassiman, D; Daly, A; De Laet, C; Eyskens, F; Gissen, P; Goyens, PJ; Huijbregts, SCJ; Jahja, R; Jameson, EA; MacDonald, A; McKiernan, PJ; Morris, AAM; Mumford, N; Rahman, Y; Timmer, C; van Ginkel, WG; van Hasselt, PM; van Spronsen, FJ; van Vliet, K; Vara, R; Wilcox, G1
Jia, L; Li, X; Ni, M; Tian, Y; Zhao, D; Zhu, X1
Äärelä, L; Hiltunen, P; Kurppa, K; Nevalainen, PI1
Arias, C; Cabello, JF; Castro, G; Cornejo, V; De la Parra, A; Fuenzalida, K; Medina, MF; Valiente, A1
Branson, S; Casimir, G; Claes, P; Colemonts-Vroninks, H; De Kock, J; Goyens, P; Marcelis, L; Martens, GA; Neuckermans, J; Vanhaecke, T1
Bärhold, F; Beblo, S; Bogovic, N; Dahl, SV; Das, AM; Dokoupil, K; Fekete, A; Fischer, A; Freisinger, P; Heddrich-Ellerbrok, M; Hochuli, M; Jörg-Streller, M; Korpel, V; Lahl, J; Lier, D; Mayorandan, S; Meyer, U; Möslinger, D; Neugebauer, AK; Och, U; Rohde, C; Rosenbaum-Fabian, S; Thimm, EM; van Teeffelen-Heithoff, A1
Gujral, J; Romero, CJ; Sethuram, S; Sperling, MA1
Aldámiz-Echevarría, L; Andrade, F; Couce, ML; González-Lamuño, D; Sánchez-Pintos, P1
Andrade, VM; Carvalho-Silva, M; Damiani, AP; Ferreira, GC; Gava, FF; Gomes, LM; Pereira, M; Rebelo, J; Scaini, G; Schuck, PF; Streck, EL; Valvassori, SS1
Agostini, JF; Andrade, VM; Carvalho-Silva, M; Damiani, A; De Prá, SDT; Ferreira, GC; Ferro, PR; Gomes, LM; Scaini, G; Schuck, PF; Streck, EL1
Barnby, E; Hillgartner, MA; Koenig, AE; MacGregor, GG; Moore, ME; Otap, CC1
Morrow, G; Tanguay, RM1
Angileri, F; Morrow, G; Tanguay, RM1
Alvarez, F; Mitchell, GA1
Huijbregts, SCJ; Jahja, R; van Ginkel, WG; van Spronsen, FJ1
Endo, F; Ito, M; Nakamura, K; Shigematsu, Y1
Berthier, MT; Giguère, Y1
Aktuglu-Zeybek, AC; Cansever, MS; Kiykim, E1
Lock, EA1
Das, AM; Meyer, U; van Rijn, M; van Spronsen, FJ1
Arnoux, JB; Aubin, F; Blanc, D; Locatelli, F; Puzenat, E1
Abbott, J; Mohite, AA1
Adam, D1
Shah, I1
Kassel, R; Rudnick, DA; Sprietsma, L1
Chen, R; Dou, LM; Fang, LJ; Li, LT; Lu, W; Wang, JS; Wang, XH; Zhao, J1
Andrade, VM; Borges, GD; Bristot, BN; Carvalho-Silva, M; De Prá, SD; Fagundes, GE; Ferreira, GC; Ferreira, GK; Leffa, DD; Scaini, G; Schuck, PF; Streck, EL; Vieira, JS1
Janovszky, A; Karg, E; László, A; Rózsa, M; Sallay, E; Tiszlavicz, L; Túri, S; Ugarte, M; Várkonyi, A; Wittmann, G1
Irkec, M; Kocabeyoglu, S; Mocan, MC1
Carvalho-Silva, M; Ferreira, GC; Ferreira, GK; Gomes, LM; Mota, IT; Scaini, G; Schuck, PF; Streck, EL; Teixeira, LJ1
Barshop, BA; Gangoiti, JA; Gertsman, I; Nyhan, WL1
Andersson, HC1
Horoz, ÖÖ; İncecik, F; Kör, D; Öktem, M; Önenli Mungan, N; Sander, J; Yıldızdaş, D1
Barnby, E; Coker, SB; Hillgartner, MA; Koenig, AE; MacGregor, GG; Moore, ME1
Derks, G; Dunster, JL; Mistry, P; Salazar, JD; Ward, JP1
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, S1
Carvalho-Silva, M; De Prá, SD; Ferreira, GC; Gomes, LM; Rebelo, J; Scaini, G; Schuck, PF; Streck, EL; Teixeira, LJ; Teodorak, BP; Zeni, N1
Banerjee, P; Banik, D; Dutta, R; Kundu, S; Sarkar, N1
Cassiman, D; Holme, E; Jaeken, J; Kvittingen, EA; Zeevaert, R1
Azuma, H; Benedetti, E; Eaton, L; Erker, L; Finegold, M; Grompe, M; Guo, C; Jensen, B; Lee, AY; Orloff, S; Willenbring, H1
Hay, DC1
Assmann, B; Herebian, D; Klee, D; Mayatepek, E; Spiekerkoetter, U; Thimm, E1
Carton, D; Dan, B; De Laet, C; François, B; Goyens, PJ; Jaeken, J; Munoz, VT; Sokal, EM1
Aldámiz-Echevarría, L; Couce, ML; Dalmau, J; del Toro, M; Pintos-Morell, G1
de Andrade, RB; Dutra-Filho, CS; Funchal, C; Gemelli, T; Rojas, DB; Wannmacher, CM2
Herebian, D; Kamp, G; Klee, D; Mayatepek, E; Molke, B; Richter-Werkle, R; Spiekerkoetter, U; Thimm, E1
Jitraruch, S; Leelaudomlipi, S; Sornmayura, P; Sriphojanart, S; Teeraratkul, S; Treepongkaruna, S; Viengteerawat, S; Wattanasirichaigoon, D1
Boenzi, S; Della Bona, ML; Dionisi-Vici, C; la Marca, G; Malvagia, S; Martinelli, D; Materazzi, S1
Broue, P; Chabrol, B; De Laet, C; Habes, D; Mention, K; Ogier de Baulny, H; Sarles, J; Schiff, M; Spraul, A; Valayannopoulos, V1
Chakrapani, A; Daly, A; Davies, P; Gokmen-Ozel, H; MacDonald, A; McKiernan, P; Preece, MA1
Kankariya, VP; Kontadakis, GA; Kymionis, GD; Ziakas, NG1
Fischer, J; Heylen, E; Marie, S; Nassogne, MC; Scherer, G; Vincent, MF1
Bogo, MR; Carvalho-Silva, M; Deroza, PF; Ferreira, GC; Ferreira, GK; Ghedim, FV; Gonçalves, CL; Kist, LW; Oliveira, GM; Pereira, TC; Scaini, G; Schuck, PF; Streck, EL; Vieira, JS; Zugno, AI1
Biernacka, M; Biernacki, M; Jakubowska-Winecka, A; Kowalik, A; Kuśmierska, K; Pohorecka, M; Sykut-Cegielska, J1
Benoist, JF; Davit-Spraul, A; Garcia Segarra, N; Grenèche, MO; Imbard, A; Ogier de Baulny, H; Roche, S1
Ahmad, S; Lueder, GT; Teckman, JH1
Gissen, P; McKiernan, PJ; Preece, MA; Willshaw, HA1
Dalton, TP; Dieter, MZ; Freshwater, SL; Miller, ML; Nebert, DW; Shertzer, HG1
GENTZ, J; JAGENBURG, R; ZETTERSTROEM, R1
Gutman, A; Korman, SH1
Berger, R; Grompe, M; Jacobs, SM; Klomp, LW; Luijerink, MC; Malingré, HE; van Beurden, EA; van den Berg, IE1
Eapen, CE; Jana, AK; Karnik, D; Oommen, A; Thomas, N1
Andersson, HC; Cunningham, A; Hooper, PF; Techakittiroj, C; Thoene, J1
André, N; Jubin, V; Ovaert, C; Roquelaure, B1
Benatiya, AI; Bhalil, S; Bouayed, MA; Daoudi, K; Elmesbahi, I; Tahri, H; Touiza, E1
Bijleveld, CM; Pierik, LJ; van Dael, CM; van Spronsen, FJ1
Menkes, JH1
Abdelhak, S; Ben Dridi, MF; Ben Osman, A; Boubaker, S; Charfeddine, C; Guediche, MN; Kaabachi, N; Kamoun, MR; Kassar, S; Keirallah, M; Laadjimi, A; Mokni, M; Monastiri, K; Nilges, M; Perin, O; Tebib, N1
Finegold, M; Jorquera, R; Langlois, C; Shroads, AL; Stacpoole, PW; Tanguay, RM1
Scott, CR1
McKiernan, PJ1
Held, PK1
DU, ML; Li, XY; Zhuang, SQ1
da Silva Ferreira, ME; Goldman, GH; Goldman, MH; Savoldi, M; Sueli Bonato, P1
Endo, F; Kimoto, Y; Matsumoto, S; Nakamura, K; Tanaka, Y; Tanoue, A; Tsujimoto, G1
Cohen, AF; van Bronswijk, H1
Fisher, AL; Lithgow, GJ; Nash, L; Page, KE1
Al-Dhalimy, M; Finegold, M; Grompe, M; Manning, K1
Dalton, TP; Dieter, MZ; Nebert, DW; Roe, AL; Solis, WA; Yang, Y1
Endo, F1
Cerone, R; Holme, E; Pérez-Cerda, C; Rüetschi, U; Schiaffino, MC; Standing, S; Ugarte, M1
Clayton, PT; Leonard, JV; Van Wyk, KG; Wilson, CJ1
Anele, E; Becker, D; De Mari, J; Giugliani, R; Lewis, E; Neto, EC; Rubim, R; Schulte, J1
Frommhold, D; Hoffmann, GF; Mayatepek, E; Schulze, A1
Eksborg, S; Hall, MG; Lumholtz, B; Provan, WM; Wilks, MF1
Jorquera, R; Tanguay, RM1
Hinkle, D; Hummel, MB; Macsai, MS; Mulhern, MG; Rootman, D; Schwartz, TL1
Al-Dhalimy, M; Finegold, M; Grompe, M; Overturf, K1
Ellaway, CJ; Green, A; Holme, E; Leonard, JV; Ploechl, E; Preece, MA; Standing, S; Trefz, FK; Ugarte, M1
al-Essa, MA; Ozand, PT; Rashed, MS1

Reviews

13 review(s) available for tyrosine and Tyrosinemias

ArticleYear
Alkaptonuria - Past, present and future.
    Advances in clinical chemistry, 2023, Volume: 114

    Topics: Alkaptonuria; Animals; Homogentisic Acid; Humans; Mice; Quality of Life; Tyrosine; Tyrosinemias

2023
Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.
    Paediatric drugs, 2019, Volume: 21, Issue:6

    Topics: Cyclohexanones; Humans; Nitrobenzoates; Tyrosine; Tyrosinemias

2019
Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.
    Advances in experimental medicine and biology, 2017, Volume: 959

    Topics: Cyclohexanones; Humans; Kidney; Liver; Liver Failure; Nitrobenzoates; Tyrosine; Tyrosinemias

2017
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
    Advances in experimental medicine and biology, 2017, Volume: 959

    Topics: Amino Acid Sequence; Animals; Genotype; Humans; Hydrolases; Mutation; Sequence Alignment; Tyrosine; Tyrosinemias

2017
Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine.
    Advances in experimental medicine and biology, 2017, Volume: 959

    Topics: Animals; Canada; Humans; Liver Diseases; Liver Transplantation; Tyrosine; Tyrosinemias

2017
Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients.
    Advances in experimental medicine and biology, 2017, Volume: 959

    Topics: Cyclohexanones; Humans; Nervous System Diseases; Nitrobenzoates; Phenylalanine; Tyrosine; Tyrosinemias

2017
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
Hereditary Tyrosinemia Type 1 in Turkey.
    Advances in experimental medicine and biology, 2017, Volume: 959

    Topics: Cyclohexanones; Humans; Hydrolases; Liver; Liver Diseases; Nitrobenzoates; Turkey; Tyrosine; Tyrosinemias

2017
From Weed Killer to Wonder Drug.
    Advances in experimental medicine and biology, 2017, Volume: 959

    Topics: Animals; Biological Products; Cyclohexanones; Enzyme Inhibitors; Humans; Liver; Nitrobenzoates; Tyrosine; Tyrosinemias

2017
Dietary Considerations in Tyrosinemia Type I.
    Advances in experimental medicine and biology, 2017, Volume: 959

    Topics: Cyclohexanones; Diet; Humans; Nitrobenzoates; Phenylalanine; Tyrosine; Tyrosinemias

2017
The genetic tyrosinemias.
    American journal of medical genetics. Part C, Seminars in medical genetics, 2006, May-15, Volume: 142C, Issue:2

    Topics: Animals; Humans; Tyrosine; Tyrosine Transaminase; Tyrosinemias

2006
Role of the aromatic hydrocarbon receptor and [Ah] gene battery in the oxidative stress response, cell cycle control, and apoptosis.
    Biochemical pharmacology, 2000, Jan-01, Volume: 59, Issue:1

    Topics: Animals; Apoptosis; Cell Cycle; Glutathione; Humans; Oxidative Stress; Receptor Cross-Talk; Receptors, Aryl Hydrocarbon; Signal Transduction; Tyrosine; Tyrosinemias

2000
[Inborn errors of tyrosine metabolism: abnormalities in catabolic pathway of phenylalanine and tyrosine].
    Seikagaku. The Journal of Japanese Biochemical Society, 1999, Volume: 71, Issue:11

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Acetoacetates; Amino Acid Metabolism, Inborn Errors; Animals; Humans; Mice; Mutation; Phenylalanine; Tyrosine; Tyrosinemias

1999

Trials

3 trial(s) available for tyrosine and Tyrosinemias

ArticleYear
Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1.
    Developmental medicine and child neurology, 2011, Volume: 53, Issue:10

    Topics: Adolescent; Belgium; Child; Child, Preschool; Cognition Disorders; Cyclohexanones; Enzyme Inhibitors; Female; Follow-Up Studies; Humans; Intelligence; Intelligence Tests; Male; Neuropsychological Tests; Nitrobenzoates; Phenylalanine; Treatment Outcome; Tyrosine; Tyrosinemias

2011
Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:1

    Topics: Child; Child, Preschool; Corneal Opacity; Cyclohexanones; Enzyme Inhibitors; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Nitrobenzoates; Tyrosine; Tyrosinemias

2003
Pharmacokinetics and pharmacodynamics of NTBC (2-(2-nitro-4-fluoromethylbenzoyl)-1,3-cyclohexanedione) and mesotrione, inhibitors of 4-hydroxyphenyl pyruvate dioxygenase (HPPD) following a single dose to healthy male volunteers.
    British journal of clinical pharmacology, 2001, Volume: 52, Issue:2

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Administration, Oral; Area Under Curve; Chemistry, Pharmaceutical; Cyclohexanones; Enzyme Inhibitors; Half-Life; Humans; Male; Nitrobenzoates; Therapeutic Equivalency; Tyrosine; Tyrosinemias

2001

Other Studies

88 other study(ies) available for tyrosine and Tyrosinemias

ArticleYear
Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients.
    Pediatric research, 2022, Volume: 92, Issue:2

    Topics: Carcinoma, Hepatocellular; Cyclohexanones; Disulfides; Homeostasis; Humans; Liver Neoplasms; Nitrobenzoates; Oxidative Stress; Sulfhydryl Compounds; Tyrosine; Tyrosinemias

2022
Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II.
    Ophthalmic genetics, 2022, Volume: 43, Issue:2

    Topics: Cornea; Corneal Diseases; Humans; Tyrosine; Tyrosinemias

2022
[Update on pathogenesis, diagnosis and treatment of hereditary tyrosinemia type Ⅰ].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2022, Jun-02, Volume: 60, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Humans; Tyrosine; Tyrosinemias

2022
Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria.
    Scientific reports, 2022, 09-27, Volume: 12, Issue:1

    Topics: Alkaptonuria; Brain Diseases, Metabolic, Inborn; Cyclohexanones; Homogentisic Acid; Humans; Nitrobenzoates; Phenylalanine; Phenylpropionates; Tyrosine; Tyrosinemias

2022
Nutritional interventions for patients with alkaptonuria: A minireview.
    Endocrine regulations, 2023, Jan-01, Volume: 57, Issue:1

    Topics: Alkaptonuria; Homogentisic Acid; Humans; Ochronosis; Tyrosine; Tyrosinemias

2023
Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype.
    Genes, 2023, 03-11, Volume: 14, Issue:3

    Topics: Animals; Carcinoma, Hepatocellular; Liver Neoplasms; Mice; Phenotype; Tyrosine; Tyrosinemias

2023
The effects of phenylalanine and tyrosine levels on dopamine production in rat PC12 cells. Implications for treatment of phenylketonuria, tyrosinemia type 1 and comorbid neurodevelopmental disorders.
    Neurochemistry international, 2023, Volume: 171

    Topics: Animals; Dopamine; Neurodevelopmental Disorders; PC12 Cells; Phenylalanine; Phenylketonurias; Proteomics; Rats; Tyrosine; Tyrosine 3-Monooxygenase; Tyrosinemias

2023
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:2

    Topics: Alkaptonuria; Animals; Cyclohexanones; Diet, Protein-Restricted; Female; Humans; Male; Mice; Nitrobenzoates; Phenylalanine; Tyrosine; Tyrosinemias

2020
Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis.
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2020, Volume: 183, Issue:2

    Topics: Adolescent; Attention Deficit Disorder with Hyperactivity; Brain; Child; Dopamine; Female; Humans; Male; Norway; Prognosis; Serotonin; Tryptophan Hydroxylase; Tyrosine; Tyrosine 3-Monooxygenase; Tyrosinemias

2020
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
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
    Orphanet journal of rare diseases, 2019, 12-04, Volume: 14, Issue:1

    Topics: Adolescent; Adult; Child; Cyclohexanones; Humans; Male; Nitrobenzoates; Phenylalanine; Quality of Life; Tyrosine; Tyrosinemias; Young Adult

2019
Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS).
    Journal of pediatric endocrinology & metabolism : JPEM, 2020, Apr-28, Volume: 33, Issue:4

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Family; Female; Humans; Infant, Newborn; Male; Mixed Function Oxygenases; Mutation; Neonatal Screening; Tandem Mass Spectrometry; Tyrosine; Tyrosinemias

2020
First Scandinavian case of successful pregnancy during nitisinone treatment for type 1 tyrosinemia.
    Journal of pediatric endocrinology & metabolism : JPEM, 2020, May-26, Volume: 33, Issue:5

    Topics: Adolescent; Cyclohexanones; Enzyme Inhibitors; Female; Humans; Nitrobenzoates; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Tyrosine; Tyrosinemias

2020
Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine- and phenylalanine restricted diet in Chile.
    American journal of medical genetics. Part C, Seminars in medical genetics, 2020, Volume: 184, Issue:4

    Topics: Adolescent; Chile; Diet; Female; Humans; Phenylalanine; Tyrosine; Tyrosinemias

2020
Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation.
    Genes, 2020, 12-22, Volume: 12, Issue:1

    Topics: Animals; Cyclohexanones; Disease Models, Animal; Glutathione; Humans; Hydrolases; Liver; Liver Regeneration; Medication Adherence; Mice; Mice, Knockout; NF-E2-Related Factor 2; Nitrobenzoates; Oxidative Stress; Oxidoreductases; Signal Transduction; Tyrosine; Tyrosinemias; Withholding Treatment

2020
Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.
    Nutrients, 2020, Dec-31, Volume: 13, Issue:1

    Topics: Adolescent; Austria; Child; Child, Preschool; Combined Modality Therapy; Cyclohexanones; Diet, Protein-Restricted; Dietary Proteins; Enzyme Inhibitors; Female; Germany; Humans; Male; Nitrobenzoates; Patient Compliance; Phenylalanine; Practice Guidelines as Topic; Prospective Studies; Retrospective Studies; Surveys and Questionnaires; Switzerland; Treatment Outcome; Tyrosine; Tyrosinemias; Young Adult

2020
Neonatal hyperinsulinism in transient and classical forms of tyrosinemia.
    Orphanet journal of rare diseases, 2021, 04-28, Volume: 16, Issue:1

    Topics: Congenital Hyperinsulinism; Diazoxide; Humans; Hyperinsulinism; Infant; Infant, Newborn; Liver; Tyrosine; Tyrosinemias

2021
Treatment adherence in tyrosinemia type 1 patients.
    Orphanet journal of rare diseases, 2021, 06-03, Volume: 16, Issue:1

    Topics: Adolescent; Adult; Child; Child, Preschool; Cyclohexanones; Humans; Infant; Nitrobenzoates; Phenylalanine; Prognosis; Treatment Adherence and Compliance; Tyrosine; Tyrosinemias; Young Adult

2021
Omega-3 fatty acid supplementation decreases DNA damage in brain of rats subjected to a chemically induced chronic model of Tyrosinemia type II.
    Metabolic brain disease, 2017, Volume: 32, Issue:4

    Topics: Animals; Antioxidants; Brain; Disease Models, Animal; DNA Damage; Fatty Acids, Omega-3; Male; Oxidative Stress; Rats; Rats, Wistar; Tyrosine; Tyrosinemias

2017
Role of antioxidant treatment on DNA and lipid damage in the brain of rats subjected to a chemically induced chronic model of tyrosinemia type II.
    Molecular and cellular biochemistry, 2017, Volume: 435, Issue:1-2

    Topics: Animals; Antioxidants; Brain; DNA Damage; Lipid Peroxidation; Male; Oxidative Stress; Rats; Rats, Wistar; Tyrosine; Tyrosinemias

2017
Abnormal social behavior in mice with tyrosinemia type I is associated with an increase of myelin in the cerebral cortex.
    Metabolic brain disease, 2017, Volume: 32, Issue:6

    Topics: Animals; Behavior, Animal; Cerebral Cortex; Disease Models, Animal; Mice; Myelin Sheath; Social Behavior; Tyrosine; Tyrosinemias

2017
Tyrosinemia Type I in Japan: A Report of Five Cases.
    Advances in experimental medicine and biology, 2017, Volume: 959

    Topics: Child, Preschool; Cyclohexanones; Female; Humans; Infant; Japan; Liver; Liver Transplantation; Male; Nitrobenzoates; Phenylalanine; Tyrosine; Tyrosinemias

2017
Richner-Hanhart syndrome (tyrosinemia type II).
    Cutis, 2017, Volume: 100, Issue:6

    Topics: Child Development; Diet Therapy; Female; Humans; Infant; Keratitis, Dendritic; Keratoderma, Palmoplantar; Mutation; Patient Care Management; Treatment Outcome; Tyrosine; Tyrosine Transaminase; Tyrosinemias

2017
Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2.
    Indian journal of ophthalmology, 2018, Volume: 66, Issue:3

    Topics: Diet, Protein-Restricted; Female; Humans; Infant; Keratoderma, Palmoplantar; Pain; Photophobia; Tyrosine; Tyrosinemias

2018
A father's fight to help his sons - and fix clinical trials.
    Nature, 2019, Volume: 565, Issue:7738

    Topics: Adolescent; Alkaptonuria; Animals; Autopsy; Child; Clinical Trials as Topic; Compassionate Use Trials; Cyclohexanones; Disease Models, Animal; Disease Progression; Drug Approval; Endpoint Determination; Female; Homogentisic Acid; Humans; Infant; Male; Mice; National Health Programs; National Institutes of Health (U.S.); Nitrobenzoates; Observational Studies as Topic; Off-Label Use; Orphan Drug Production; Rare Diseases; Rats; Sample Size; Tyrosine; Tyrosinemias; United States; United States Food and Drug Administration

2019
Gene Editing Successfully Corrects 2 Amino Acid Disorders: In 2 preclinical studies using CRISPR-mediated gene editing, phenylketonuria and hereditary tyrosinemia type 1 were corrected.
    American journal of medical genetics. Part A, 2019, Volume: 179, Issue:1

    Topics: Amino Acids; Animals; CRISPR-Cas Systems; Disease Models, Animal; Gene Editing; Humans; Hydrolases; Mice; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Tyrosine; Tyrosinemias

2019
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
Pregnancy in an NTBC-treated patient with hereditary tyrosinemia type I.
    Journal of pediatric gastroenterology and nutrition, 2015, Volume: 60, Issue:1

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Combined Modality Therapy; Contraindications; Cyclohexanones; Enzyme Inhibitors; Female; Humans; Nitrobenzoates; Phenylalanine; Pregnancy; Pregnancy Complications; Term Birth; Tyrosine; Tyrosinemias

2015
[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
L-tyrosine induces DNA damage in brain and blood of rats.
    Neurochemical research, 2014, Volume: 39, Issue:1

    Topics: Animals; Brain; Comet Assay; DNA Damage; Oxidative Stress; Rats; Rats, Wistar; Tyrosine; Tyrosine Transaminase; Tyrosinemias

2014
The fate of tyrosinaemic Hungarian patients before the NTBC aera.
    Ideggyogyaszati szemle, 2013, Nov-30, Volume: 66, Issue:11-12

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Carcinoma, Hepatocellular; Carcinoma, Renal Cell; Child, Preschool; Cyclohexanones; Enzyme Inhibitors; Fatal Outcome; Homozygote; Humans; Hungary; Hydrolases; Kidney Neoplasms; Liver Neoplasms; Male; Nitrobenzoates; Treatment Outcome; Tyrosine; Tyrosinemias

2013
In vivo confocal microscopic features of corneal pseudodendritic lesions in tyrosinemia type II.
    Cornea, 2014, Volume: 33, Issue:10

    Topics: Child; Epithelium, Corneal; Female; Humans; Keratitis, Dendritic; Microscopy, Confocal; Tyrosine; Tyrosine Transaminase; Tyrosinemias

2014
The characterization of neuroenergetic effects of chronic L-tyrosine administration in young rats: evidence for striatal susceptibility.
    Metabolic brain disease, 2015, Volume: 30, Issue:1

    Topics: Animals; Brain Chemistry; Cerebral Cortex; Citrate (si)-Synthase; Citric Acid Cycle; Corpus Striatum; Disease Models, Animal; Electron Transport Chain Complex Proteins; Energy Metabolism; Hippocampus; Malate Dehydrogenase; Male; Nerve Tissue Proteins; Rats; Rats, Wistar; Tyrosine; Tyrosinemias

2015
Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.
    Molecular genetics and metabolism, 2015, Volume: 114, Issue:3

    Topics: Aldehydes; Alkaptonuria; Cell Line, Tumor; Cyclohexanones; Gastrointestinal Microbiome; Humans; Indoles; Mass Spectrometry; Metabolomics; Nitrobenzoates; Phenylpyruvic Acids; Symbiosis; Tryptophan; Tyrosine; Tyrosinemias

2015
50 years ago in The Journal of Pediatrics: Tyrosinemia--an inborn error of tyrosine metabolism with cirrhosis of the liver and multiple renal defects.
    The Journal of pediatrics, 2015, Volume: 166, Issue:4

    Topics: Child; History, 20th Century; Humans; Kidney Diseases; Liver Cirrhosis; Pediatrics; Periodicals as Topic; Tyrosine; Tyrosinemias

2015
Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.
    Metabolic brain disease, 2016, Volume: 31, Issue:5

    Topics: Cyclohexanones; Fatal Outcome; Humans; Infant; Male; Nervous System Diseases; Nitrobenzoates; Time Factors; Tyrosine; Tyrosinemias

2016
Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice.
    Journal of inherited metabolic disease, 2016, Volume: 39, Issue:5

    Topics: Animals; Behavior, Animal; Cyclohexanones; Disease Models, Animal; Hydrolases; Learning; Memory, Long-Term; Mice; Nitrobenzoates; Tyrosine; Tyrosinemias

2016
Predicting tyrosinaemia: a mathematical model of 4-hydroxyphenylpyruvate dioxygenase inhibition by nitisinone in rats.
    Mathematical medicine and biology : a journal of the IMA, 2017, 09-01, Volume: 34, Issue:3

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Animals; Computer Simulation; Cyclohexanones; Enzyme Inhibitors; Kinetics; Liver; Mathematical Concepts; Models, Animal; Models, Biological; Nitrobenzoates; Rats; Tyrosine; Tyrosinemias

2017
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
Antioxidants reverse the changes in energy metabolism of rat brain after chronic administration of L.-tyrosine.
    Metabolic brain disease, 2017, Volume: 32, Issue:2

    Topics: Acetylcysteine; Animals; Antioxidants; Brain Chemistry; Citrate (si)-Synthase; Citric Acid Cycle; Creatine Kinase; Deferoxamine; Electron Transport; Energy Metabolism; Male; Oxidative Stress; Rats; Rats, Wistar; Succinate Dehydrogenase; Tyrosine; Tyrosinemias

2017
Investigation of Fibril Forming Mechanisms of l-Phenylalanine and l-Tyrosine: Microscopic Insight toward Phenylketonuria and Tyrosinemia Type II.
    The journal of physical chemistry. B, 2017, 02-23, Volume: 121, Issue:7

    Topics: Crown Ethers; Europium; Hydrogen Bonding; Kinetics; Macromolecular Substances; Phenylalanine; Phenylketonurias; Samarium; Terbium; Tyrosine; Tyrosinemias

2017
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
Therapeutic liver reconstitution with murine cells isolated long after death.
    Gastroenterology, 2010, Volume: 139, Issue:3

    Topics: Animals; Biomarkers; Cadaver; Cell Proliferation; Cell Separation; Cell Survival; Cells, Cultured; Disease Models, Animal; Hepatocytes; Humans; Hydrolases; Liver; Liver Regeneration; Macaca mulatta; Mice; Mice, Knockout; Proteins; RNA, Untranslated; Temperature; Time Factors; Tyrosine; Tyrosinemias

2010
Cadaveric hepatocytes repopulate diseased livers: life after death.
    Gastroenterology, 2010, Volume: 139, Issue:3

    Topics: Animals; Biomarkers; Cadaver; Cell Proliferation; Cell Separation; Cell Survival; Cells, Cultured; Hepatocytes; Humans; Hydrolases; Liver; Liver Regeneration; Temperature; Time Factors; Tyrosine; Tyrosinemias

2010
Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I.
    Molecular genetics and metabolism, 2011, Volume: 102, Issue:2

    Topics: Brain; Child; Cyclohexanones; Enzyme Inhibitors; Humans; Infant; Male; Nitrobenzoates; Psychomotor Performance; Serotonin; Tyrosine; Tyrosinemias

2011
Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.
    Pediatrics international : official journal of the Japan Pediatric Society, 2011, Volume: 53, Issue:6

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Child; Child, Preschool; Cyclohexanones; DNA; DNA Mutational Analysis; Enzyme Inhibitors; Female; Follow-Up Studies; Genotype; Humans; Incidence; Male; Mutation; Nitrobenzoates; Retrospective Studies; Spain; Time Factors; Treatment Outcome; Tyrosine; Tyrosinemias

2011
Tyrosine inhibits creatine kinase activity in cerebral cortex of young rats.
    Metabolic brain disease, 2011, Volume: 26, Issue:3

    Topics: Animals; Cerebral Cortex; Creatine Kinase, Mitochondrial Form; Cytosol; Glutathione; Humans; Mitochondria; Oxidation-Reduction; Oxidative Stress; Rats; Rats, Wistar; Time Factors; Tyrosine; Tyrosinemias

2011
Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:2

    Topics: Cerebrum; Child; Child, Preschool; Cognition; Cognition Disorders; Cyclohexanones; Enzyme Inhibitors; Female; Humans; Infant; Language Development; Long-Term Care; Male; Motor Activity; Nitrobenzoates; Psychometrics; Time; Treatment Outcome; Tyrosine; Tyrosinemias

2012
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
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:5

    Topics: Belgium; Disease Management; Follow-Up Studies; France; Humans; Kidney; Liver; Long-Term Care; Practice Guidelines as Topic; Surveys and Questionnaires; Tyrosine; Tyrosinemias

2012
Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned?
    Journal of human nutrition and dietetics : the official journal of the British Dietetic Association, 2012, Volume: 25, Issue:2

    Topics: Child; Child, Preschool; Circadian Rhythm; Dietary Proteins; Female; Humans; Male; Phenylalanine; Practice Guidelines as Topic; Retrospective Studies; Tyrosine; Tyrosinemias

2012
Tyrosine impairs enzymes of energy metabolism in cerebral cortex of rats.
    Molecular and cellular biochemistry, 2012, Volume: 364, Issue:1-2

    Topics: Adenylate Kinase; Animals; Cerebral Cortex; Creatine; Disease Models, Animal; Energy Metabolism; Enzyme Activation; Glutathione; Humans; Mitochondria; Nervous System Diseases; Pyruvate Kinase; Rats; Rats, Wistar; Tyrosine; Tyrosine Transaminase; Tyrosinemias

2012
Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twins.
    Journal of pediatric ophthalmology and strabismus, 2012, May-08, Volume: 49 Online

    Topics: Blepharospasm; Corneal Diseases; Dendrites; Diet, Protein-Restricted; Diseases in Twins; Humans; Infant; Male; Photophobia; Twins, Monozygotic; Tyrosine; Tyrosinemias

2012
Tyrosinemia Type III detected via neonatal screening: management and outcome.
    Molecular genetics and metabolism, 2012, Volume: 107, Issue:3

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Child, Preschool; Diet, Protein-Restricted; Disease Management; Homozygote; Humans; Infant, Newborn; Introns; Male; Mutation; Neonatal Screening; Psychomotor Performance; Treatment Outcome; Tyrosine; Tyrosinemias

2012
L-tyrosine administration increases acetylcholinesterase activity in rats.
    Neurochemistry international, 2012, Volume: 61, Issue:8

    Topics: Acetylcholinesterase; Animals; Animals, Newborn; Animals, Suckling; Brain Chemistry; Disease Models, Animal; Drug Administration Schedule; Enzyme Induction; GPI-Linked Proteins; Injections, Intraperitoneal; Male; Nerve Tissue Proteins; Rats; Rats, Wistar; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Tyrosine; Tyrosinemias

2012
Behavioral and intellectual functioning in patients with tyrosinemia type I.
    Pediatric endocrinology, diabetes, and metabolism, 2012, Volume: 18, Issue:3

    Topics: Adolescent; Attention Deficit Disorder with Hyperactivity; Child; Cognition Disorders; Female; Humans; Intelligence Tests; Male; Mental Disorders; Phenylalanine; Problem Solving; Tyrosine; Tyrosinemias; Wechsler Scales

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
Corneal opacities associated with NTBC treatment.
    American journal of ophthalmology, 2002, Volume: 134, Issue:2

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Child, Preschool; Cornea; Corneal Opacity; Cyclohexanones; Diet, Protein-Restricted; Enzyme Inhibitors; Female; Humans; Nitrobenzoates; Tyrosine; Tyrosinemias

2002
Pharmacological rescue of the 14CoS/14CoS mouse: hepatocyte apoptosis is likely caused by endogenous oxidative stress.
    Free radical biology & medicine, 2003, Aug-15, Volume: 35, Issue:4

    Topics: Animals; Apoptosis; Caspase 3; Caspases; Cyclohexanones; Free Radicals; Glutamate-Cysteine Ligase; Glutathione; Hepatocytes; Heterozygote; Humans; Hydrolases; Kidney; Liver; Mice; Mice, Knockout; Mice, Transgenic; Microscopy, Electron; Models, Chemical; Nitrobenzoates; Oxidative Stress; Protein Structure, Tertiary; RNA; RNA, Messenger; Time Factors; Tyrosine; Tyrosinemias

2003
TYROSINEMIA.
    The Journal of pediatrics, 1965, Volume: 66

    Topics: Acid-Base Equilibrium; Amino Acid Metabolism, Inborn Errors; Biochemical Phenomena; Biochemistry; Blood; Child; Chronic Kidney Disease-Mineral and Bone Disorder; Drug Therapy; Fanconi Syndrome; Genetics, Medical; Humans; Infant; Infant, Newborn; Kidney Diseases; Kidney Function Tests; Kidney Tubules; Liver Cirrhosis; Liver Function Tests; Pathology; Pigmentation Disorders; Prognosis; Proteinuria; Radiography; Rickets; Thrombocytopenia; Tyrosine; Tyrosinemias; Vitamin D; Water-Electrolyte Balance

1965
N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.
    Journal of pediatric gastroenterology and nutrition, 2004, Volume: 39, Issue:1

    Topics: Adolescent; Biomarkers; Enteral Nutrition; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Male; Middle Aged; Parenteral Nutrition; Tyrosine; Tyrosinemias

2004
Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1.
    Kidney international, 2004, Volume: 66, Issue:3

    Topics: Animals; Caspase 3; Caspase 9; Caspases; Cyclohexanones; Disease Models, Animal; DNA Fragmentation; Enzyme Inhibitors; Hepatocytes; Homogentisic Acid; Hydrolases; In Situ Nick-End Labeling; Kidney Tubules, Proximal; Mice; Mice, Knockout; Nitrobenzoates; Survival Rate; Tyrosine; Tyrosinemias

2004
Tyrosinemia type I: a clinico-laboratory case report.
    Indian journal of pediatrics, 2004, Volume: 71, Issue:10

    Topics: alpha-Fetoproteins; Female; Humans; Infant, Newborn; Methionine; Renal Aminoacidurias; Tyrosine; Tyrosinemias

2004
High protein diet mimics hypertyrosinemia in newborn infants.
    The Journal of pediatrics, 2005, Volume: 146, Issue:2

    Topics: Diagnosis, Differential; Diet Therapy; Dietary Proteins; Female; Humans; Infant Food; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Treatment Outcome; Tyrosine; Tyrosinemias

2005
Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Cardiomyopathy, Hypertrophic; Cyclohexanones; Echocardiography; Enzyme Inhibitors; Humans; Hypertrophy, Left Ventricular; Infant; Male; Nitrobenzoates; Tyrosine; Tyrosinemias

2005
[Tyrosinemia type II. Case report].
    Bulletin de la Societe belge d'ophtalmologie, 2005, Issue:296

    Topics: Child; Humans; Male; Tyrosine; Tyrosinemias

2005
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
The history of hypertyrosinemia caused by high protein diets.
    The Journal of pediatrics, 2006, Volume: 148, Issue:2

    Topics: Dietary Proteins; Humans; Infant Food; Infant, Newborn; Intellectual Disability; Phenylalanine; Tyrosine; Tyrosinemias

2006
Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.
    Molecular genetics and metabolism, 2006, Volume: 88, Issue:2

    Topics: Adult; Amino Acid Sequence; Child; Child, Preschool; Consanguinity; Female; Haplotypes; Humans; Male; Microsatellite Repeats; Models, Molecular; Molecular Sequence Data; Mutation, Missense; Pedigree; Pregnancy; Tunisia; Tyrosine; Tyrosine Transaminase; Tyrosinemias

2006
Evaluation of dichloroacetate treatment in a murine model of hereditary tyrosinemia type 1.
    Biochemical pharmacology, 2006, May-28, Volume: 71, Issue:11

    Topics: Animals; Cyclohexanones; Dichloroacetic Acid; Female; Glutathione; Glutathione Disulfide; Hydrolases; Kidney; Liver; Male; Mice; Nitrobenzoates; Oxidative Stress; Tyrosine; Tyrosinemias; Weight Loss

2006
Nitisinone in the treatment of hereditary tyrosinaemia type 1.
    Drugs, 2006, Volume: 66, Issue:6

    Topics: Carcinoma, Hepatocellular; Cyclohexanones; Enzyme Inhibitors; Humans; Kidney Diseases; Liver Diseases; Liver Failure; Liver Neoplasms; Liver Transplantation; Monitoring, Physiologic; Nitrobenzoates; Tyrosine; Tyrosinemias

2006
Disorders of tyrosine catabolism.
    Molecular genetics and metabolism, 2006, Volume: 88, Issue:2

    Topics: Alkaptonuria; Animals; cis-trans-Isomerases; Humans; Tyrosine; Tyrosinemias

2006
[Diagnosis of hereditary tyrosinemia type I: clinical study of ten patients].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2006, Volume: 44, Issue:6

    Topics: Child, Preschool; Female; Humans; Infant; Male; Methionine; Tyrosine; Tyrosine Transaminase; Tyrosinemias

2006
Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans.
    Eukaryotic cell, 2006, Volume: 5, Issue:8

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Aspergillus nidulans; Gene Deletion; Humans; Models, Biological; Phenylalanine; Phenylpyruvic Acids; Tyrosine; Tyrosinemias

2006
Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarrays.
    Molecular genetics and metabolism, 2006, Volume: 89, Issue:3

    Topics: Animals; Apoptosis; Caspases; Down-Regulation; Female; Gene Expression Profiling; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; Hydrolases; Liver; Mice; Mice, Mutant Strains; Neurodegenerative Diseases; Oligonucleotide Array Sequence Analysis; Oxidoreductases; Porphobilinogen Synthase; Reverse Transcriptase Polymerase Chain Reaction; RNA; Smad7 Protein; Tyrosine; Tyrosinemias; Up-Regulation

2006
[New drugs; nitisinone].
    Nederlands tijdschrift voor geneeskunde, 2006, Nov-18, Volume: 150, Issue:46

    Topics: Cyclohexanones; Enzyme Inhibitors; Humans; Nitrobenzoates; Tyrosine; Tyrosinemias

2006
The Caenorhabditis elegans K10C2.4 gene encodes a member of the fumarylacetoacetate hydrolase family: a Caenorhabditis elegans model of type I tyrosinemia.
    The Journal of biological chemistry, 2008, Apr-04, Volume: 283, Issue:14

    Topics: Aging; Animals; Caenorhabditis elegans; Caenorhabditis elegans Proteins; Disease Models, Animal; Fertility; Hydrolases; Intestines; Mutation; Oxidative Stress; Phenotype; Protein Folding; RNA Interference; Tyrosine; Tyrosinemias

2008
In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I.
    Proceedings of the National Academy of Sciences of the United States of America, 1999, Oct-12, Volume: 96, Issue:21

    Topics: Acetoacetates; Alanine Transaminase; Animals; Cloning, Molecular; Crosses, Genetic; Disease Models, Animal; Ethylnitrosourea; Gene Conversion; Gene Deletion; Genotype; Heterozygote; Liver; Loss of Heterozygosity; Mice; Mice, Knockout; Models, Genetic; Mutagenesis; Precancerous Conditions; Reverse Transcriptase Polymerase Chain Reaction; Suppression, Genetic; Tyrosine; Tyrosinemias

1999
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.
    Human genetics, 2000, Volume: 106, Issue:6

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Amino Acid Substitution; Binding Sites; Child; DNA Mutational Analysis; Exons; Female; Homozygote; Humans; Infant; Introns; Kidney; Liver; Male; Mutation, Missense; Polymerase Chain Reaction; Restriction Mapping; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Tyrosine; Tyrosinemias

2000
Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:7

    Topics: Child; Child, Preschool; Dietary Supplements; Humans; Infant; Phenylalanine; Treatment Outcome; Tyrosine; Tyrosinemias

2000
Persistent tyrosinemia detected by thin-layer chromatography.
    The Southeast Asian journal of tropical medicine and public health, 1999, Volume: 30 Suppl 2

    Topics: Chromatography, Thin Layer; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Tyrosine; Tyrosinemias

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
Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.
    Human molecular genetics, 2001, Aug-15, Volume: 10, Issue:17

    Topics: Acetoacetates; Animals; Cell Line; Chromosome Aberrations; Cricetinae; Fluorescent Antibody Technique; G2 Phase; Glutathione; Golgi Apparatus; HeLa Cells; Humans; MAP Kinase Signaling System; Mitogen-Activated Protein Kinase Kinases; Mitogen-Activated Protein Kinases; Mitosis; Phosphorylation; Protein Serine-Threonine Kinases; Reactive Oxygen Species; Spindle Apparatus; Tyrosine; Tyrosinemias

2001
Tyrosinemia type II: nine cases of ocular signs and symptoms.
    American journal of ophthalmology, 2001, Volume: 132, Issue:4

    Topics: Child; Child, Preschool; Cornea; Diet, Protein-Restricted; Female; Humans; Infant; Keratitis; Keratosis; Male; Mental Disorders; Tyrosine; Tyrosinemias; Visual Acuity

2001
Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I.
    Molecular genetics and metabolism, 2002, Volume: 75, Issue:1

    Topics: Animals; Cyclohexanones; Diet; Disease Models, Animal; Enzyme Inhibitors; Hydrolases; Mice; Mice, Knockout; Nitrobenzoates; Phenylalanine; Tyrosine; Tyrosinemias

2002
Outcome of tyrosinaemia type III.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:8

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intelligence; Male; Neonatal Screening; Treatment Outcome; Tyrosine; Tyrosinemias

2001
Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response.
    Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit, 1999, Volume: 5, Issue:6

    Topics: Adult; Child; Chromatography, High Pressure Liquid; Female; Humans; Intellectual Disability; Male; Mass Spectrometry; Phenylalanine; Retrospective Studies; Tyrosine; Tyrosinemias

1999