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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 23430836)

  • 1. Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
    la Marca G; Malvagia S; Pasquini E; Cavicchi C; Morrone A; Ciani F; Funghini S; Villanelli F; Zammarchi E; Guerrini R
    JIMD Rep; 2011; 1():107-9. PubMed ID: 23430836
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
    Magera MJ; Gunawardena ND; Hahn SH; Tortorelli S; Mitchell GA; Goodman SI; Rinaldo P; Matern D
    Mol Genet Metab; 2006 May; 88(1):16-21. PubMed ID: 16448836
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.
    De Jesús VR; Adam BW; Mandel D; Cuthbert CD; Matern D
    Mol Genet Metab; 2014; 113(1-2):67-75. PubMed ID: 25066104
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.
    Turgeon C; Magera MJ; Allard P; Tortorelli S; Gavrilov D; Oglesbee D; Raymond K; Rinaldo P; Matern D
    Clin Chem; 2008 Apr; 54(4):657-64. PubMed ID: 18281422
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine.
    Metz TF; Mechtler TP; Merk M; Gottschalk A; Lukačin R; Herkner KR; Kasper DC
    Clin Chim Acta; 2012 Aug; 413(15-16):1259-64. PubMed ID: 22521492
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.
    Škaričić A; Zekušić M; Fumić K; Rogić D; Uroić V; Petković Ramadža D; Žigman T; Barić I
    Clin Mass Spectrom; 2019 Apr; 12():1-6. PubMed ID: 34841073
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Improved MS/MS analysis of succinylacetone extracted from dried blood spots when combined with amino acids and acylcarnitine butyl esters.
    Chace DH; Lim T; Hansen CR; De Jesus VR; Hannon WH
    Clin Chim Acta; 2009 Sep; 407(1-2):6-9. PubMed ID: 19545553
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Preliminary proficiency testing results for succinylacetone in dried blood spots for newborn screening for tyrosinemia type I.
    Adam BW; Lim TH; Hall EM; Hannon WH
    Clin Chem; 2009 Dec; 55(12):2207-13. PubMed ID: 19850631
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Development of Flow Injection Analysis Method for the Second-Tier Estimation of Succinylacetone in Dried Blood Spot of Newborn Screening.
    Varughese B; Madrewar D; Polipalli SK; Kapoor S
    Indian J Clin Biochem; 2022 Jan; 37(1):40-50. PubMed ID: 35125692
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Performance of succinylacetone assays and their associated proficiency testing outcomes.
    Adam BW; Hall EM; Meredith NK; Lim TH; Haynes CA; De Jesus VR; Hannon WH
    Clin Biochem; 2012 Dec; 45(18):1658-63. PubMed ID: 22906829
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (
    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; 30():100836. PubMed ID: 35242570
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction process.
    Dhillon KS; Bhandal AS; Aznar CP; Lorey FW; Neogi P
    Clin Chim Acta; 2011 May; 412(11-12):873-9. PubMed ID: 21216241
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.
    la Marca G; Malvagia S; Pasquini E; Innocenti M; Fernandez MR; Donati MA; Zammarchi E
    Rapid Commun Mass Spectrom; 2008; 22(6):812-8. PubMed ID: 18278819
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.
    Priestley JRC; Alharbi H; Callahan KP; Guzman H; Payan-Walters I; Smith L; Ficicioglu C; Ganetzky RD; Ahrens-Nicklas RC
    Int J Neonatal Screen; 2020 Jun; 6(2):. PubMed ID: 32832707
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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; 50(2):126-30. PubMed ID: 22455637
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 46(1-2):155-9. PubMed ID: 23000314
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Screening for hereditary tyrosinemia and genotype analysis in newborns].
    Tong F; Yang R; Liu C; Wu D; Zhang T; Huang X; Hong F; Qian G; Huang X; Zhou X; Shu Q; Zhao Z
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2019 Jun; 48(4):459-464. PubMed ID: 31901053
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hereditary tyrosinemia type I--an overview.
    Kvittingen EA
    Scand J Clin Lab Invest Suppl; 1986; 184():27-34. PubMed ID: 3296130
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.