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Journal Abstract Search

328 related items for PubMed ID: 30414226

  • 1. 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; 49(5):578-591. PubMed ID: 30414226
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland.
    Savolainen MJ, Karlsson A, Rohkimainen S, Toppila I, Lassenius MI, Falconi CV, Uusi-Rauva K, Elomaa K.
    Mol Genet Metab Rep; 2021 Jun 16; 27():100725. PubMed ID: 33604241
    [Abstract] [Full Text] [Related]

  • 4. Scoring system to facilitate diagnosis of Gaucher disease.
    Mehta A, Rivero-Arias O, Abdelwahab M, Campbell S, McMillan A, Rolfe MJ, Bright JR, Kuter DJ.
    Intern Med J; 2020 Dec 16; 50(12):1538-1546. PubMed ID: 33174353
    [Abstract] [Full Text] [Related]

  • 5. Cross-sectional web-based survey among haematologists and gastroenterologists in Japan to identify the key factors for early diagnosis of Gaucher disease.
    Yoshimitsu M, Ono M, Inoue Y, Sagara R, Baba T, Fernandez J.
    Intern Med J; 2023 Jun 16; 53(6):930-938. PubMed ID: 35499124
    [Abstract] [Full Text] [Related]

  • 6. Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks.
    Pehrsson M, Heikkinen H, Wartiovaara-Kautto U, Mäntylahti S, Bäckström P, Lassenius MI, Uusi-Rauva K, Carpén O, Elomaa K.
    Mol Genet Metab Rep; 2022 Dec 16; 33():100911. PubMed ID: 36092251
    [Abstract] [Full Text] [Related]

  • 7. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.
    Mehta A, Belmatoug N, Bembi B, Deegan P, Elstein D, Göker-Alpan Ö, Lukina E, Mengel E, Nakamura K, Pastores GM, Pérez-López J, Schwartz I, Serratrice C, Szer J, Zimran A, Di Rocco M, Panahloo Z, Kuter DJ, Hughes D.
    Mol Genet Metab; 2017 Nov 16; 122(3):122-129. PubMed ID: 28847676
    [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 16; 96(4):352-9. PubMed ID: 26033455
    [Abstract] [Full Text] [Related]

  • 9. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis.
    Kaplan P, Andersson HC, Kacena KA, Yee JD.
    Arch Pediatr Adolesc Med; 2006 Jun 16; 160(6):603-8. PubMed ID: 16754822
    [Abstract] [Full Text] [Related]

  • 10. Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.
    Puri RD, Kapoor S, Kishnani PS, Dalal A, Gupta N, Muranjan M, Phadke SR, Sachdeva A, Verma IC, Mistry PK, Gaucher Disease Task Force.
    Indian Pediatr; 2018 Feb 15; 55(2):143-153. PubMed ID: 29503270
    [Abstract] [Full Text] [Related]

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  • 12. Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.
    Di Rocco M, Andria G, Deodato F, Giona F, Micalizzi C, Pession A.
    Pediatr Blood Cancer; 2014 Nov 15; 61(11):1905-9. PubMed ID: 25131373
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 506():22-27. PubMed ID: 32165122
    [Abstract] [Full Text] [Related]

  • 14. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention.
    Mistry PK, Sadan S, Yang R, Yee J, Yang M.
    Am J Hematol; 2007 Aug 15; 82(8):697-701. PubMed ID: 17492645
    [Abstract] [Full Text] [Related]

  • 15. 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 Aug 15; 124(11):587-92. PubMed ID: 25188399
    [Abstract] [Full Text] [Related]

  • 16. Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist.
    Carubbi F, Cappellini MD, Fargion S, Fracanzani AL, Nascimbeni F.
    Dig Liver Dis; 2020 Apr 15; 52(4):368-373. PubMed ID: 32057684
    [Abstract] [Full Text] [Related]

  • 17. [Gaucher disease: importance of early diagnosis and therapy].
    Simon G, Erdos M, Maródi L, Tóth J.
    Orv Hetil; 2008 Apr 20; 149(16):743-50. PubMed ID: 18426721
    [Abstract] [Full Text] [Related]

  • 18. Hematological manifestations and complications of Gaucher disease.
    Revel-Vilk S, Szer J, Zimran A.
    Expert Rev Hematol; 2021 Apr 20; 14(4):347-354. PubMed ID: 33759681
    [Abstract] [Full Text] [Related]

  • 19. An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan.
    Ida H, Watanabe Y, Sagara R, Inoue Y, Fernandez J.
    Orphanet J Rare Dis; 2022 Nov 03; 17(1):401. PubMed ID: 36329499
    [Abstract] [Full Text] [Related]

  • 20. Gaucher disease: a diagnostic challenge for internists.
    Cassinerio E, Graziadei G, Poggiali E.
    Eur J Intern Med; 2014 Feb 03; 25(2):117-24. PubMed ID: 24090739
    [Abstract] [Full Text] [Related]

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