These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

226 related items for PubMed ID: 27876694

  • 1. Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
    Yang H, Al-Hertani W, Cyr D, Laframboise R, Parizeault G, Wang SP, Rossignol F, Berthier MT, Giguère Y, Waters PJ, Mitchell GA, Québec NTBC Study Group.
    J Med Genet; 2017 Apr; 54(4):241-247. PubMed ID: 27876694
    [Abstract] [Full Text] [Related]

  • 2. Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.
    Yang H, Rossignol F, Cyr D, Laframboise R, Wang SP, Soucy JF, Berthier MT, Giguère Y, Waters PJ, Mitchell GA, Québec NTBC Study Group.
    Mol Genet Metab Rep; 2018 Mar; 14():55-58. PubMed ID: 29326876
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Sniderman King L, Trahms C, Scott CR.
    ; 1993 Mar. PubMed ID: 20301688
    [Abstract] [Full Text] [Related]

  • 4. Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
    Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC.
    Hum Mutat; 2016 Oct; 37(10):1097-105. PubMed ID: 27397503
    [Abstract] [Full Text] [Related]

  • 5. Maternal and fetal tyrosinemia type I.
    Garcia Segarra N, Roche S, Imbard A, Benoist JF, Grenèche MO, Davit-Spraul A, Ogier de Baulny H.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S507-10. PubMed ID: 23250512
    [Abstract] [Full Text] [Related]

  • 6. [Mutation analysis of FAH gene in patients with tyrosinemia type 1].
    Dou LM, Fang LJ, Wang XH, Lu W, Chen R, Li LT, Zhao J, Wang JS.
    Zhonghua Er Ke Za Zhi; 2013 Apr; 51(4):302-7. PubMed ID: 23927806
    [Abstract] [Full Text] [Related]

  • 7. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
    Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA.
    Mol Genet Metab; 2012 Sep; 107(1-2):49-54. PubMed ID: 22885033
    [Abstract] [Full Text] [Related]

  • 8. Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
    Ibarra-González I, Fernández-Lainez C, Alcántara-Ortigoza MA, González-Del Angel A, Fernández-Henández L, Guillén-López S, Belmont-Martínez L, López-Mejía L, Varela-Fascinetto G, Vela-Amieva M.
    Mol Genet Genomic Med; 2019 Dec; 7(12):e937. PubMed ID: 31568711
    [Abstract] [Full Text] [Related]

  • 9. 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.
    la Marca G, Malvagia S, Materazzi S, Della Bona ML, Boenzi S, Martinelli D, Dionisi-Vici C.
    Anal Chem; 2012 Jan 17; 84(2):1184-8. PubMed ID: 22148291
    [Abstract] [Full Text] [Related]

  • 10. Evaluation of dichloroacetate treatment in a murine model of hereditary tyrosinemia type 1.
    Langlois C, Jorquera R, Finegold M, Shroads AL, Stacpoole PW, Tanguay RM.
    Biochem Pharmacol; 2006 May 28; 71(11):1648-61. PubMed ID: 16581029
    [Abstract] [Full Text] [Related]

  • 11. Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1.
    Li L, Zhang Q, Yang H, Zou Q, Lai C, Jiang F, Zhao P, Luo Z, Yang J, Chen Q, Wang Y, Newsome PN, Frampton J, Maxwell PH, Li W, Chen S, Wang D, Siu TS, Tam S, Tse HF, Qin B, Bao X, Esteban MA, Lai L.
    J Biol Chem; 2017 Mar 17; 292(11):4755-4763. PubMed ID: 28053091
    [Abstract] [Full Text] [Related]

  • 12. Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation.
    Colemonts-Vroninks H, Neuckermans J, Marcelis L, Claes P, Branson S, Casimir G, Goyens P, Martens GA, Vanhaecke T, De Kock J.
    Genes (Basel); 2020 Dec 22; 12(1):. PubMed ID: 33375092
    [Abstract] [Full Text] [Related]

  • 13. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant.
    Sikonja J, Brecelj J, Zerjav Tansek M, Repic Lampret B, Drole Torkar A, Klemencic S, Lipovec N, Stefanova Kralj V, Bertok S, Kovac J, Faganel Kotnik B, Tesarova M, Remec ZI, Debeljak M, Battelino T, Groselj U.
    Mol Genet Metab Rep; 2022 Mar 22; 30():100836. PubMed ID: 35242570
    [Abstract] [Full Text] [Related]

  • 14. A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood.
    Rokaitė R, Čibirkaitė A, Zeleckytė V, Lazdinytė G, Dženkaitis M.
    Medicina (Kaunas); 2024 Jan 11; 60(1):. PubMed ID: 38256395
    [Abstract] [Full Text] [Related]

  • 15. Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.
    Aponte JL, Sega GA, Hauser LJ, Dhar MS, Withrow CM, Carpenter DA, Rinchik EM, Culiat CT, Johnson DK.
    Proc Natl Acad Sci U S A; 2001 Jan 16; 98(2):641-5. PubMed ID: 11209059
    [Abstract] [Full Text] [Related]

  • 16. Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.
    Park HD, Lee DH, Choi TY, Lee YK, Kim JW, Ki CS, Lee YW.
    Clin Chem Lab Med; 2009 Jan 16; 47(8):930-3. PubMed ID: 19569981
    [Abstract] [Full Text] [Related]

  • 17. Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 - A UK centre experience.
    Yeo M, Turner C, Dalton NR, Rahman Y, Vara R.
    Ann Clin Biochem; 2020 Nov 16; 57(6):412-419. PubMed ID: 32936663
    [Abstract] [Full Text] [Related]

  • 18. Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
    Ijaz S, Zahoor MY, Imran M, Afzal S, Bhinder MA, Ullah I, Cheema HA, Ramzan K, Shehzad W.
    J Pediatr Endocrinol Metab; 2016 Mar 16; 29(3):327-32. PubMed ID: 26565546
    [Abstract] [Full Text] [Related]

  • 19. A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
    Cassiman D, Zeevaert R, Holme E, Kvittingen EA, Jaeken J.
    Orphanet J Rare Dis; 2009 Dec 15; 4():28. PubMed ID: 20003495
    [Abstract] [Full Text] [Related]

  • 20. A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.
    Maksimova NR, Gurinova EE, Sukhomyasova AL, Danilova AL, Kaimonov VS, Savvina MT, Yakovleva AE, Alekseeva EI.
    Wiad Lek; 2016 Dec 15; 69(2 Pt 2):295-8. PubMed ID: 27487552
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 12.