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Journal Abstract Search

260 related items for PubMed ID: 25188399

  • 1. Clinical utility of different bone marrow examination methods in the diagnosis of adults with sporadic Gaucher disease type 1.
    Machaczka M, Markuszewska-Kuczyńska A, Regenthal S, Jurczyszyn A, Gałązka K, Wahlin BE, Klimkowska M.
    Pol Arch Med Wewn; 2014; 124(11):587-92. PubMed ID: 25188399
    [Abstract] [Full Text] [Related]

  • 2. Atypical cytomorphology of Gaucher cells is frequently seen in bone marrow smears from untreated patients with Gaucher disease type 1.
    Markuszewska-Kuczynska A, Klimkowska M, Regenthal S, Bulanda A, Kämpe Björkvall C, Machaczka M.
    Folia Histochem Cytobiol; 2015; 53(1):62-9. PubMed ID: 25736845
    [Abstract] [Full Text] [Related]

  • 3. High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.
    Huang Y, Jia X, Tang C, Liu S, Sheng H, Zhao X, Zeng C, Liu L.
    Clin Chim Acta; 2020 Jul; 506():22-27. PubMed ID: 32165122
    [Abstract] [Full Text] [Related]

  • 4. Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data.
    Revel-Vilk S, Shalev V, Gill A, Paltiel O, Manor O, Tenenbaum A, Azani L, Chodick G.
    Orphanet J Rare Dis; 2024 Feb 16; 19(1):71. PubMed ID: 38365689
    [Abstract] [Full Text] [Related]

  • 5. [Gaucher Disease type 1 mimicking immune thrombocytopenia: Role of hyperferritinemia and hypergammaglobulinemia in the initial evaluation of an isolated thrombopenia].
    Faucher B, Seguier J, Swiader L, Cuquemelle C, Cerutti D, Ebbo M.
    Rev Med Interne; 2019 Oct 16; 40(10):680-683. PubMed ID: 31213336
    [Abstract] [Full Text] [Related]

  • 6. Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.
    Motta I, Consonni D, Stroppiano M, Benedetto C, Cassinerio E, Tappino B, Ranalli P, Borin L, Facchini L, Patriarca A, Barcellini W, Lanza F, Filocamo M, Cappellini MD, Splenomegaly Gaucher group.
    Sci Rep; 2021 Jan 28; 11(1):2594. PubMed ID: 33510429
    [Abstract] [Full Text] [Related]

  • 7. Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis?
    Mariani S, Palumbo G, Cardarelli L, Santopietro M, Foà R, Giona F.
    Acta Haematol; 2018 Jan 28; 139(4):240-242. PubMed ID: 29945135
    [Abstract] [Full Text] [Related]

  • 8. A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.
    Motta I, Filocamo M, Poggiali E, Stroppiano M, Dragani A, Consonni D, Barcellini W, Gaidano G, Facchini L, Specchia G, Cappellini MD, Splenomegaly Gaucher Disease study group.
    Eur J Haematol; 2016 Apr 28; 96(4):352-9. PubMed ID: 26033455
    [Abstract] [Full Text] [Related]

  • 9. Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
    Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Göker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A.
    Intern Med J; 2019 May 28; 49(5):578-591. PubMed ID: 30414226
    [Abstract] [Full Text] [Related]

  • 10. Two delayed-diagnosis case reports of long-lasting thrombocytopenia with splenomegaly.
    Chen B, Dai W, Xu Y, Wang F, Liu J.
    Medicine (Baltimore); 2024 Aug 23; 103(34):e39354. PubMed ID: 39183396
    [Abstract] [Full Text] [Related]

  • 11. Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.
    Zhang JH, Chen H, Ruan DD, Chen Y, Zhang L, Gao MZ, Chen Q, Yu HP, Wu JY, Lin XF, Fang ZT, Zheng XL, Luo JW, Liao LS, Li H.
    Ann Hematol; 2024 May 23; 103(5):1765-1774. PubMed ID: 38509388
    [Abstract] [Full Text] [Related]

  • 12. Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI--A Retrospective Data Analysis.
    Laudemann K, Moos L, Mengel KE, Lollert A, Reinke J, Brixius-Huth M, Wagner D, Düber C, Staatz G.
    Rofo; 2015 Dec 23; 187(12):1093-8. PubMed ID: 26200566
    [Abstract] [Full Text] [Related]

  • 13. Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.
    Serai SD, Naidu AP, Andrew Burrow T, Prada CE, Xanthakos S, Towbin AJ.
    Mol Genet Metab; 2018 Mar 23; 123(3):357-363. PubMed ID: 29361370
    [Abstract] [Full Text] [Related]

  • 14. [Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].
    Deriaz S, Serratrice C, Lidove O, Noël E, Masseau A, Lorcerie B, Jaussaud R, Marie I, Lavigne C, Cabane J, Kaminsky P, Chérin P, Maillot F, pour le groupe de travail 'médecine interne-maladies rares'.
    Rev Med Interne; 2019 Dec 23; 40(12):778-784. PubMed ID: 31500934
    [Abstract] [Full Text] [Related]

  • 15. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
    Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S.
    J Inherit Metab Dis; 2008 Dec 23; 31(6):738-44. PubMed ID: 18979180
    [Abstract] [Full Text] [Related]

  • 16. [Gaucher disease type I diagnosed at 63 years old presenting with thrombocytopenia].
    Kawahara S, Kato A, Oshimi K, Ida H.
    Rinsho Ketsueki; 2008 May 23; 49(5):335-9. PubMed ID: 18572811
    [Abstract] [Full Text] [Related]

  • 17. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
    Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG.
    Int J Mol Sci; 2017 Feb 17; 18(2):. PubMed ID: 28218669
    [Abstract] [Full Text] [Related]

  • 18. GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.
    Pession A, Di Rocco M, Venturelli F, Tappino B, Morello W, Santoro N, Giordano P, Filippini B, Rinieri S, Russo G, Girardi K, Ruggiero A, Galea E, Antonucci R, Tovaglieri N, Porta F, Tartaglione I, Giona F, Fagioli F, Burlina A, Pediatric Gaucher Study Group.
    Orphanet J Rare Dis; 2023 Jun 16; 18(1):151. PubMed ID: 37328863
    [Abstract] [Full Text] [Related]

  • 19. [Hematological aspects of Gaucher disease].
    Costello R, O'Callaghan T, Baccini V, Sébahoun G.
    Rev Med Interne; 2007 Oct 16; 28 Suppl 2():S176-9. PubMed ID: 18228684
    [Abstract] [Full Text] [Related]

  • 20. Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment.
    Regenboog M, Bohte AE, Akkerman EM, Stoker J, Hollak CEM.
    Br J Haematol; 2017 Nov 16; 179(4):635-647. PubMed ID: 28905365
    [Abstract] [Full Text] [Related]

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