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Journal Abstract Search

219 related items for PubMed ID: 23250512

  • 21. Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
    Haghighi-Kakhki H, Rezazadeh J, Ahmadi-Shadmehri A.
    J Pediatr Endocrinol Metab; 2014 Jul; 27(7-8):795-8. PubMed ID: 24756054
    [Abstract] [Full Text] [Related]

  • 22. The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients.
    van Ginkel WG, van Reemst HE, Kienstra NS, Daly A, Rodenburg IL, MacDonald A, Burgerhof JGM, de Blaauw P, van de Krogt J, Santra S, Heiner-Fokkema MR, van Spronsen FJ.
    Nutrients; 2019 Nov 18; 11(11):. PubMed ID: 31752110
    [Abstract] [Full Text] [Related]

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  • 24. Type 1 tyrosinemia in Finland: a nationwide study.
    Äärelä L, Hiltunen P, Soini T, Vuorela N, Huhtala H, Nevalainen PI, Heikinheimo M, Kivelä L, Kurppa K.
    Orphanet J Rare Dis; 2020 Oct 12; 15(1):281. PubMed ID: 33046095
    [Abstract] [Full Text] [Related]

  • 25. 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 Oct 12; 47(8):930-3. PubMed ID: 19569981
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico.
    Fernández-Lainez C, Ibarra-González I, Belmont-Martínez L, Monroy-Santoyo S, Guillén-López S, Vela-Amieva M.
    Ann Hepatol; 2014 Jan 16; 13(2):265-72. PubMed ID: 24552869
    [Abstract] [Full Text] [Related]

  • 28. 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 16; 37(10):1097-105. PubMed ID: 27397503
    [Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing.
    Rafati M, Mohamadhashem F, Hoseini A, Ramandi SD, Ghaffari SR.
    Fetal Pediatr Pathol; 2016 Mar 16; 35(4):282-5. PubMed ID: 27093575
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. [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]

  • 33. Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report.
    Jitraruch S, Treepongkaruna S, Teeraratkul S, Wattanasirichaigoon D, Leelaudomlipi S, Sornmayura P, Viengteerawat S, Sriphojanart S.
    J Med Assoc Thai; 2011 Oct 16; 94(10):1276-80. PubMed ID: 22145516
    [Abstract] [Full Text] [Related]

  • 34. 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
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  • 35.
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  • 36. Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I.
    Thimm E, Herebian D, Assmann B, Klee D, Mayatepek E, Spiekerkoetter U.
    Mol Genet Metab; 2011 Feb 11; 102(2):122-5. PubMed ID: 21112803
    [Abstract] [Full Text] [Related]

  • 37. Deranged Liver Function in a Neonate.
    Peake RW.
    Clin Chem; 2016 Nov 11; 62(11):1539-1541. PubMed ID: 27794060
    [No Abstract] [Full Text] [Related]

  • 38. 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 11; 7(12):e937. PubMed ID: 31568711
    [Abstract] [Full Text] [Related]

  • 39. Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1.
    Schlump JU, Mayatepek E, Spiekerkoetter U.
    Eur J Pediatr; 2010 May 11; 169(5):569-72. PubMed ID: 19813022
    [Abstract] [Full Text] [Related]

  • 40. High volume naked DNA tail-vein injection restores liver function in Fah-knock out mice.
    Eggenhofer E, Doenecke A, Renner P, Slowik P, Piso P, Geissler EK, Schlitt HJ, Dahlke MH, Popp FC.
    J Gastroenterol Hepatol; 2010 May 11; 25(5):1002-8. PubMed ID: 20546455
    [Abstract] [Full Text] [Related]

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