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

342 related items for PubMed ID: 11814475

  • 1. Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
    Chamoles NA, Blanco M, Gaggioli D, Casentini C.
    Clin Chim Acta; 2002 Mar; 317(1-2):191-7. PubMed ID: 11814475
    [Abstract] [Full Text] [Related]

  • 2. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
    Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH.
    Clin Chem; 2004 Oct; 50(10):1785-96. PubMed ID: 15292070
    [Abstract] [Full Text] [Related]

  • 3. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
    Chamoles NA, Blanco M, Gaggioli D, Casentini C.
    Clin Chim Acta; 2002 Apr; 318(1-2):133-7. PubMed ID: 11880123
    [Abstract] [Full Text] [Related]

  • 4. Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.
    Orsini JJ, Martin MM, Showers AL, Bodamer OA, Zhang XK, Gelb MH, Caggana M.
    Clin Chim Acta; 2012 Aug 16; 413(15-16):1270-3. PubMed ID: 22548856
    [Abstract] [Full Text] [Related]

  • 5. Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
    Elliott S, Buroker N, Cournoyer JJ, Potier AM, Trometer JD, Elbin C, Schermer MJ, Kantola J, Boyce A, Turecek F, Gelb MH, Scott CR.
    Mol Genet Metab; 2016 Aug 16; 118(4):304-9. PubMed ID: 27238910
    [Abstract] [Full Text] [Related]

  • 6. Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.
    Kadali S, Kolusu A, Sunkara S, Gummadi MR, Undamatla J.
    Clin Chim Acta; 2016 Jun 01; 457():8-11. PubMed ID: 26975750
    [Abstract] [Full Text] [Related]

  • 7. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
    Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM.
    Mol Genet Metab; 2018 Feb 01; 123(2):76-84. PubMed ID: 29290526
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
    Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC.
    Lancet; 2012 Jan 28; 379(9813):335-41. PubMed ID: 22133539
    [Abstract] [Full Text] [Related]

  • 10. Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation.
    Christomanou H.
    Hoppe Seylers Z Physiol Chem; 1980 Oct 28; 361(10):1489-502. PubMed ID: 6256275
    [Abstract] [Full Text] [Related]

  • 11. Successful newborn screening for Gaucher disease using fluorometric assay in China.
    Kang L, Zhan X, Gu X, Zhang H.
    J Hum Genet; 2017 Aug 28; 62(8):763-768. PubMed ID: 28356566
    [Abstract] [Full Text] [Related]

  • 12. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.
    Ries M, Schaefer E, Lührs T, Mani L, Kuhn J, Vanier MT, Krummenauer F, Gal A, Beck M, Mengel E.
    J Inherit Metab Dis; 2006 Oct 28; 29(5):647-52. PubMed ID: 16972172
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. [Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].
    Wang Y, Zhang HW, Ye J, Qiu WJ, Han LS, Gu XF.
    Zhonghua Er Ke Za Zhi; 2012 Nov 28; 50(11):834-8. PubMed ID: 23302614
    [Abstract] [Full Text] [Related]

  • 15. Prenatal diagnosis of Gaucher's and Niemann-Pick diseases. Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates.
    Chazan S, Zitman D, Klibansky C.
    Clin Chim Acta; 1978 May 16; 86(1):45-9. PubMed ID: 207472
    [Abstract] [Full Text] [Related]

  • 16. Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases.
    Wajner A, Michelin K, Burin MG, Pires RF, Pereira ML, Giugliani R, Coelho JC.
    Clin Biochem; 2004 Oct 16; 37(10):893-7. PubMed ID: 15369720
    [Abstract] [Full Text] [Related]

  • 17. Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease.
    Brinkman J, Wijburg FA, Hollak CE, Groener JE, Verhoek M, Scheij S, Aten J, Boot RG, Aerts JM.
    J Inherit Metab Dis; 2005 Oct 16; 28(1):13-20. PubMed ID: 15702402
    [Abstract] [Full Text] [Related]

  • 18. Misdiagnosis of Niemann-Pick disease type C as Gaucher disease.
    Lo SM, McNamara J, Seashore MR, Mistry PK.
    J Inherit Metab Dis; 2010 Dec 16; 33 Suppl 3(0 3):S429-33. PubMed ID: 20882348
    [Abstract] [Full Text] [Related]

  • 19. Studies on the activation of sphingomyelinase activity in Niemann-Pick type A, B, and C fibroblasts: enzymological differentiation of types A and B.
    Poulos A, Ranieri E, Shankaran P, Callahan JW.
    Pediatr Res; 1984 Nov 16; 18(11):1088-93. PubMed ID: 6096798
    [Abstract] [Full Text] [Related]

  • 20. Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.
    Kampine JP, Brady RO, Kanfer JN, Feld M, Shapiro D.
    Science; 1967 Jan 06; 155(3758):86-8. PubMed ID: 6015567
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 18.