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 *

114 related articles for article (PubMed ID: 24979053)

  • 1. Brazilian reference values for MPS II screening in dried blood spots--a fluorimetric assay.
    Rezende MM; Müller KB; Pereira VG; D'Almeida V
    Clin Biochem; 2014 Sep; 47(13-14):1297-9. PubMed ID: 24979053
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
    Tolun AA; Graham C; Shi Q; Sista RS; Wang T; Eckhardt AE; Pamula VK; Millington DS; Bali DS
    Mol Genet Metab; 2012 Mar; 105(3):519-21. PubMed ID: 22227323
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples.
    Dean CJ; Bockmann MR; Hopwood JJ; Brooks DA; Meikle PJ
    Clin Chem; 2006 Apr; 52(4):643-9. PubMed ID: 16497940
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II.
    Johnson BA; van Diggelen OP; Dajnoki A; Bodamer OA
    Curr Protoc Hum Genet; 2013 Oct; 79():17.14.1-17.14.9. PubMed ID: 24510650
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)].
    Zhang WM; Shi HP; Li BT; Zhao SM; Qi QW; Sun NH; Huang SZ
    Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):644-7. PubMed ID: 17217652
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Direct assay of iduronate-2-sulfatase for Hunter disease using UPLC-tandem mass spectrometry and fluorogenic substrate.
    Lee K; Jun SH; Song SH; Park HD; Park KU; Song J
    Clin Biochem; 2015 Dec; 48(18):1350-3. PubMed ID: 26297117
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.
    Lin SP; Chang JH; Lee-Chen GJ; Lin DS; Lin HY; Chuang CK
    Clin Chim Acta; 2006 Jul; 369(1):29-34. PubMed ID: 16480701
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).
    Wolfe BJ; Blanchard S; Sadilek M; Scott CR; Turecek F; Gelb MH
    Anal Chem; 2011 Feb; 83(3):1152-6. PubMed ID: 21192662
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay.
    Keulemans JL; Sinigerska I; Garritsen VH; Huijmans JG; Voznyi YV; van Diggelen OP; Kleijer WJ
    Prenat Diagn; 2002 Nov; 22(11):1016-21. PubMed ID: 12424767
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
    Brusius-Facchin AC; Abrahão L; Schwartz IV; Lourenço CM; Santos ES; Zanetti A; Tomanin R; Scarpa M; Giugliani R; Leistner-Segal S
    Gene; 2013 Sep; 526(2):150-4. PubMed ID: 23707223
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).
    Voznyi YV; Keulemans JL; van Diggelen OP
    J Inherit Metab Dis; 2001 Nov; 24(6):675-80. PubMed ID: 11768586
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
    Chistiakov DA; Kuzenkova LM; Savost'anov KV; Gevorkyan AK; Pushkov AA; Nikitin AG; Vashakmadze ND; Zhurkova NV; Podkletnova TV; Namazova-Baranova LS; Baranov AA
    J Genet Genomics; 2014 Apr; 41(4):197-203. PubMed ID: 24780617
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II.
    Higuchi T; Shimizu H; Fukuda T; Kawagoe S; Matsumoto J; Shimada Y; Kobayashi H; Ida H; Ohashi T; Morimoto H; Hirato T; Nishino K; Eto Y
    Mol Genet Metab; 2012 Sep; 107(1-2):122-8. PubMed ID: 22704483
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples.
    Camelier MV; Burin MG; De Mari J; Vieira TA; Marasca G; Giugliani R
    Clin Chim Acta; 2011 Sep; 412(19-20):1805-8. PubMed ID: 21684269
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease.
    Dairaku T; Iwamoto T; Nishimura M; Endo M; Ohashi T; Eto Y
    Mol Genet Metab; 2014 Feb; 111(2):193-6. PubMed ID: 24295952
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.
    Chkioua L; Grissa O; Leban N; Gribaa M; Boudabous H; Turkia HB; Ferchichi S; Tebib N; Laradi S
    BMC Med Genet; 2020 May; 21(1):111. PubMed ID: 32448126
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.
    de Ruijter J; de Ru MH; Wagemans T; Ijlst L; Lund AM; Orchard PJ; Schaefer GB; Wijburg FA; van Vlies N
    Mol Genet Metab; 2012 Dec; 107(4):705-10. PubMed ID: 23084433
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Prenatal diagnosis of mucopolysaccharidosis type II].
    Zhang XS; Zhang HW; Gu XF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Oct; 28(5):536-8. PubMed ID: 21983729
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Newborn screening for hunter disease: a small-scale feasibility study.
    Ruijter GJ; Goudriaan DA; Boer AM; Van den Bosch J; Van der Ploeg AT; Elvers LH; Weinreich SS; Reuser AJ
    JIMD Rep; 2014; 14():23-7. PubMed ID: 24272678
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
    Wang D; Wood T; Sadilek M; Scott CR; Turecek F; Gelb MH
    Clin Chem; 2007 Jan; 53(1):137-40. PubMed ID: 17082248
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.