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Journal Abstract Search

285 related items for PubMed ID: 23927806

  • 1. [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]

  • 2. [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].
    Yang N, Han LS, Ye J, Qiu WJ, Zhang HW, Gong ZW, Zhang YF, Wang Y, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):648-52. PubMed ID: 23225041
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 15; 29(3):327-32. PubMed ID: 26565546
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 37(10):1097-105. PubMed ID: 27397503
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 33 Suppl 3():S507-10. PubMed ID: 23250512
    [Abstract] [Full Text] [Related]

  • 7. [Clinical and genetic analysis of a patient with tyrosinemia type I but without elevated succinylacetone].
    Guo L, Jiao B, Liu F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 May 10; 36(5):472-476. PubMed ID: 31030436
    [Abstract] [Full Text] [Related]

  • 8. Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
    Cao YY, Zhang YL, DU J, Qu YJ, Zhong XM, Bai JL, Song F.
    Chin Med J (Engl); 2012 Jun 10; 125(12):2132-6. PubMed ID: 22884142
    [Abstract] [Full Text] [Related]

  • 9. 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 Jun 10; 47(8):930-3. PubMed ID: 19569981
    [Abstract] [Full Text] [Related]

  • 10. Tyrosinemia: a report of three cases from India.
    Shah I.
    Indian J Gastroenterol; 2013 Mar 10; 32(2):123-6. PubMed ID: 23408258
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. [Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1].
    Han LS, Ye J, Qiu WJ, Zhang HW, Wang Y, Ji WJ, Gao XL, Li XY, Jin J, Gu XF.
    Zhonghua Er Ke Za Zhi; 2012 Feb 16; 50(2):126-30. PubMed ID: 22455637
    [Abstract] [Full Text] [Related]

  • 13. Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.
    Choi HJ, Bang HI, Ki CS, Lee SY, Kim JW, Song J, Shin MR, Lee YW, Lee DH, Park HD.
    Ann Clin Lab Sci; 2014 Feb 16; 44(3):317-23. PubMed ID: 25117105
    [Abstract] [Full Text] [Related]

  • 14. Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
    Mohamed S, Kambal MA, Al Jurayyan NA, Al-Nemri A, Babiker A, Hasanato R, Al-Jarallah AS.
    BMC Res Notes; 2013 Sep 09; 6():362. PubMed ID: 24016420
    [Abstract] [Full Text] [Related]

  • 15. 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 Sep 09; 69(2 Pt 2):295-8. PubMed ID: 27487552
    [Abstract] [Full Text] [Related]

  • 16. Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.
    St-Louis M, Leclerc B, Laine J, Salo MK, Holmberg C, Tanguay RM.
    Hum Mol Genet; 1994 Jan 09; 3(1):69-72. PubMed ID: 8162054
    [Abstract] [Full Text] [Related]

  • 17. Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong.
    Mak CM, Lam CW, Chim S, Siu TS, Ng KF, Tam S.
    Clin Biochem; 2013 Jan 09; 46(1-2):155-9. PubMed ID: 23000314
    [Abstract] [Full Text] [Related]

  • 18. Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.
    Arranz JA, Piñol F, Kozak L, Pérez-Cerdá C, Cormand B, Ugarte M, Riudor E.
    Hum Mutat; 2002 Sep 09; 20(3):180-8. PubMed ID: 12203990
    [Abstract] [Full Text] [Related]

  • 19. Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing.
    Rafati M, Mohamadhashem F, Hoseini A, Ramandi SD, Ghaffari SR.
    Fetal Pediatr Pathol; 2016 Sep 09; 35(4):282-5. PubMed ID: 27093575
    [Abstract] [Full Text] [Related]

  • 20. Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
    Grompe M, al-Dhalimy M.
    Hum Mutat; 1993 Sep 09; 2(2):85-93. PubMed ID: 8318997
    [Abstract] [Full Text] [Related]

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