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Journal Abstract Search

194 related items for PubMed ID: 36656217

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

  • 2. 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]

  • 3. [Lysosomal storage diseases: A brief summary].
    Bornemann A, Harzer K.
    Pathologe; 2015 Sep 01; 36(5):485-93. PubMed ID: 26314267
    [Abstract] [Full Text] [Related]

  • 4. Lysosomal storage disorders: Morphologic appraisal in Indian population.
    Pradhan D, Varma N, Gami A, Hura KS, Mohanty SK.
    J Cancer Res Ther; 2017 Sep 01; 13(3):442-445. PubMed ID: 28862206
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 01; 61():40-44. PubMed ID: 30205089
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 61(4):345-9. PubMed ID: 26740238
    [Abstract] [Full Text] [Related]

  • 8. Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies.
    Stepien KM, Cufflin N, Donald A, Jones S, Church H, Hargreaves IP.
    Int J Mol Sci; 2022 Sep 12; 23(18):. PubMed ID: 36142486
    [Abstract] [Full Text] [Related]

  • 9. AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.
    Nascimbeni F, Dionisi Vici C, Vespasiani Gentilucci U, Angelico F, Nobili V, Petta S, Valenti L, AISF Rare Diseases Committee.
    Dig Liver Dis; 2020 Apr 12; 52(4):359-367. PubMed ID: 31902560
    [Abstract] [Full Text] [Related]

  • 10. Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
    Di Rocco M, Vici CD, Burlina A, Venturelli F, Fiumara A, Fecarotta S, Donati MA, Spada M, Concolino D, Pession A.
    Orphanet J Rare Dis; 2023 Jul 21; 18(1):197. PubMed ID: 37480063
    [Abstract] [Full Text] [Related]

  • 11. 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 21; 317(1-2):191-7. PubMed ID: 11814475
    [Abstract] [Full Text] [Related]

  • 12. Interstitial lung disease in lysosomal storage disorders.
    Borie R, Crestani B, Guyard A, Lidove O.
    Eur Respir Rev; 2021 Jun 30; 30(160):. PubMed ID: 33927007
    [Abstract] [Full Text] [Related]

  • 13. Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly.
    vom Dahl S, Mengel E.
    Best Pract Res Clin Gastroenterol; 2010 Oct 30; 24(5):619-28. PubMed ID: 20955964
    [Abstract] [Full Text] [Related]

  • 14. Niemann Pick c or storage by excessive blood cell destruction: a case presenting a diagnosis problem.
    Lageron A, Mazière JC, Gane P, Goossens D, Roy C.
    Acta Histochem; 1992 Oct 30; 92(1):39-45. PubMed ID: 1580140
    [Abstract] [Full Text] [Related]

  • 15. Newborn Screening for Lysosomal Storage Disorders.
    Anderson S.
    J Pediatr Health Care; 2018 Oct 30; 32(3):285-294. PubMed ID: 29678259
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. The intersection of lysosomal and endoplasmic reticulum calcium with autophagy defects in lysosomal diseases.
    Liu EA, Lieberman AP.
    Neurosci Lett; 2019 Apr 01; 697():10-16. PubMed ID: 29704574
    [Abstract] [Full Text] [Related]

  • 18. Serum protein profile analysis in lysosomal storage disorders patients.
    López de Frutos L, García-González E, García-Rodríguez B, González-Irazabal Y, Lahoz C, Irún P, Cebolla JJ, Giraldo P.
    Clin Chim Acta; 2020 Nov 01; 510():430-436. PubMed ID: 32745579
    [Abstract] [Full Text] [Related]

  • 19. Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann - Pick type C and Sanfilippo diseases.
    Dimitriou E, Paschali E, Kanariou M, Michelakakis H.
    Mol Genet Metab Rep; 2019 Sep 01; 20():100477. PubMed ID: 31194046
    [Abstract] [Full Text] [Related]

  • 20. 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]

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