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Journal Abstract Search

258 related items for PubMed ID: 30205089

  • 1. Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders.
    Kadali S, Madalasa T, Reddy GM, Naushad SM.
    Clin Biochem; 2018 Nov; 61():40-44. PubMed ID: 30205089
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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 01; 29(5):647-52. PubMed ID: 16972172
    [Abstract] [Full Text] [Related]

  • 4. Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases.
    Olkhovych NV.
    Ukr Biochem J; 2016 Oct 01; 88(1):69-78. PubMed ID: 29227082
    [Abstract] [Full Text] [Related]

  • 5. Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases.
    Aerts JM, Hollak CE, van Breemen M, Maas M, Groener JE, Boot RG.
    Acta Paediatr Suppl; 2005 Mar 01; 94(447):43-6; discussion 37-8. PubMed ID: 15895711
    [Abstract] [Full Text] [Related]

  • 6. [Plasma chitotriosidase activity in Argentinian patients with Gaucher disease, various lysosomal diseases and other inherited metabolic disorders].
    Dodelson de Kremer R, Paschini de Capra A, Angaroni CJ, Giner de Ayala A.
    Medicina (B Aires); 1997 Mar 01; 57(6):677-84. PubMed ID: 9674188
    [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. [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 01; 50(11):834-8. PubMed ID: 23302614
    [Abstract] [Full Text] [Related]

  • 9. Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.
    Rodrigues MR, Sá Miranda MC, Amaral O.
    Blood Cells Mol Dis; 2004 Nov 01; 33(3):362-4. PubMed ID: 15528158
    [Abstract] [Full Text] [Related]

  • 10. Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions.
    Yañez MJ, Marín T, Balboa E, Klein AD, Alvarez AR, Zanlungo S.
    Biochim Biophys Acta Mol Basis Dis; 2020 Oct 01; 1866(10):165875. PubMed ID: 32522631
    [Abstract] [Full Text] [Related]

  • 11. Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.
    Cappellini MD, Motta I, Barbato A, Giuffrida G, Manna R, Carubbi F, Giona F.
    Eur J Intern Med; 2023 Feb 01; 108():81-84. PubMed ID: 36443133
    [Abstract] [Full Text] [Related]

  • 12. Elevated plasma chitotriosidase activity in various lysosomal storage disorders.
    Guo Y, He W, Boer AM, Wevers RA, de Bruijn AM, Groener JE, Hollak CE, Aerts JM, Galjaard H, van Diggelen OP.
    J Inherit Metab Dis; 1995 Feb 01; 18(6):717-22. PubMed ID: 8750610
    [Abstract] [Full Text] [Related]

  • 13. [Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic].
    Poupetová H, Ledvinová J, Chudoba D, Hrebícek M, Kozich V, Macek M, Elleder M.
    Cas Lek Cesk; 2000 Aug 02; 139(15):468-74. PubMed ID: 22666927
    [Abstract] [Full Text] [Related]

  • 14. Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease.
    Aerts JM, van Breemen MJ, Bussink AP, Ghauharali K, Sprenger R, Boot RG, Groener JE, Hollak CE, Maas M, Smit S, Hoefsloot HC, Smilde AK, Vissers JP, de Jong S, Speijer D, de Koster CG.
    Acta Paediatr; 2008 Apr 02; 97(457):7-14. PubMed ID: 18339181
    [Abstract] [Full Text] [Related]

  • 15. Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.
    Michelin K, Wajner A, de Souza FT, de Mello AS, Burin MG, Pereira ML, Pires RF, Giugliani R, Coelho JC.
    Am J Med Genet A; 2005 Jul 01; 136(1):58-62. PubMed ID: 15937950
    [Abstract] [Full Text] [Related]

  • 16. Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population.
    Motlagh B, Taghikhani M, Khatami S, Zamanfar D.
    Genet Test Mol Biomarkers; 2016 Jan 01; 20(1):31-6. PubMed ID: 26624962
    [Abstract] [Full Text] [Related]

  • 17. Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders.
    Nishith N, Siddiqui SH, R Raja SK, Agrawal N, Phadke S, Sharma S.
    Indian J Pathol Microbiol; 2023 Jan 01; 66(1):91-95. PubMed ID: 36656217
    [Abstract] [Full Text] [Related]

  • 18. 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 Jan 01; 28(1):13-20. PubMed ID: 15702402
    [Abstract] [Full Text] [Related]

  • 19. A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders.
    Rappaport J, Manthe RL, Solomon M, Garnacho C, Muro S.
    Mol Pharm; 2016 Feb 01; 13(2):357-368. PubMed ID: 26702793
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 317(1-2):191-7. PubMed ID: 11814475
    [Abstract] [Full Text] [Related]

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