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Journal Abstract Search

394 related items for PubMed ID: 26740238

  • 1. Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China.
    Chen X, Qiu W, Ye J, Han L, Gu X, Zhang H.
    J Hum Genet; 2016 Apr; 61(4):345-9. PubMed ID: 26740238
    [Abstract] [Full Text] [Related]

  • 2. Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease.
    Thomas DC, Sharma S, Puri RD, Verma IC, Verma J.
    Clin Biochem; 2021 Mar; 89():14-37. PubMed ID: 33301762
    [Abstract] [Full Text] [Related]

  • 3.
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  • 4. Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review.
    Jezela-Stanek A, Chorostowska-Wynimko J, Tylki-Szymańska A.
    Clin Respir J; 2020 May; 14(5):422-429. PubMed ID: 31912638
    [Abstract] [Full Text] [Related]

  • 5. Patients' perspectives on newborn screening for later-onset lysosomal storage diseases.
    Lisi EC, Gillespie S, Laney D, Ali N.
    Mol Genet Metab; 2016 Sep; 119(1-2):109-14. PubMed ID: 27591925
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Lysosomal storage diseases.
    Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ.
    Nat Rev Dis Primers; 2018 Oct 01; 4(1):27. PubMed ID: 30275469
    [Abstract] [Full Text] [Related]

  • 8. [Lysosomal storage diseases].
    Manger B.
    Z Rheumatol; 2010 Aug 01; 69(6):527-38. PubMed ID: 20532791
    [Abstract] [Full Text] [Related]

  • 9. Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases.
    Kopitz J, Harzer K, Kohlschütter A, Zöller B, Blenck N, Cantz M.
    Am J Med Genet; 1996 May 03; 63(1):198-202. PubMed ID: 8723110
    [Abstract] [Full Text] [Related]

  • 10. Lysosomal storage diseases in Greece.
    Michelakakis H, Dimitriou E, Tsagaraki S, Giouroukos S, Schulpis K, Bartsocas CS.
    Genet Couns; 1995 May 03; 6(1):43-7. PubMed ID: 7794561
    [Abstract] [Full Text] [Related]

  • 11. 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 May 03; 66(1):91-95. PubMed ID: 36656217
    [Abstract] [Full Text] [Related]

  • 12. Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens.
    O'Brien JS, Bernett J, Veath ML, Paa D.
    Arch Neurol; 1975 Sep 03; 32(9):592-9. PubMed ID: 809024
    [Abstract] [Full Text] [Related]

  • 13. Newborn screening for lysosomal storage disorders.
    Nakamura K, Hattori K, Endo F.
    Am J Med Genet C Semin Med Genet; 2011 Feb 15; 157C(1):63-71. PubMed ID: 21312327
    [Abstract] [Full Text] [Related]

  • 14. Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
    Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL.
    Orphanet J Rare Dis; 2020 Feb 03; 15(1):38. PubMed ID: 32014045
    [Abstract] [Full Text] [Related]

  • 15. Lysosomal storage disease overview.
    Sun A.
    Ann Transl Med; 2018 Dec 03; 6(24):476. PubMed ID: 30740407
    [Abstract] [Full Text] [Related]

  • 16. Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.
    Eskes ECB, Beishuizen CRL, Corazolla EM, van Middelaar T, Brands MMMG, Dekker H, van de Mheen E, Langeveld M, Hollak CEM, Sjouke B.
    Orphanet J Rare Dis; 2022 Oct 21; 17(1):383. PubMed ID: 36271424
    [Abstract] [Full Text] [Related]

  • 17. Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.
    Liao HC, Chiang CC, Niu DM, Wang CH, Kao SM, Tsai FJ, Huang YH, Liu HC, Huang CK, Gao HJ, Yang CF, Chan MJ, Lin WD, Chen YJ.
    Clin Chim Acta; 2014 Apr 20; 431():80-6. PubMed ID: 24513544
    [Abstract] [Full Text] [Related]

  • 18. Newborn Screening for Lysosomal Storage Disorders.
    Anderson S.
    J Pediatr Health Care; 2018 Apr 20; 32(3):285-294. PubMed ID: 29678259
    [Abstract] [Full Text] [Related]

  • 19. Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities.
    Hoffmann B, Mayatepek E.
    Neuropediatrics; 2005 Oct 20; 36(5):285-9. PubMed ID: 16217702
    [Abstract] [Full Text] [Related]

  • 20. Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.
    Kilavuz S, Kor D, Bulut FD, Serbes M, Karagoz D, Altıntas DU, Bisgin A, Seydaoğlu G, Mungan HNO.
    Arch Pediatr; 2022 Aug 20; 29(6):415-423. PubMed ID: 35705384
    [Abstract] [Full Text] [Related]

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