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Journal Abstract Search

271 related items for PubMed ID: 28847676

  • 1. 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; 122(3):122-129. PubMed ID: 28847676
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. [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; 40(12):778-784. PubMed ID: 31500934
    [Abstract] [Full Text] [Related]

  • 4. 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; 96(4):352-9. PubMed ID: 26033455
    [Abstract] [Full Text] [Related]

  • 5. 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; 82(8):697-701. PubMed ID: 17492645
    [Abstract] [Full Text] [Related]

  • 6. The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey.
    Mengel E, Gaedeke J, Gothe H, Krupka S, Lachmann A, Reinke J, Ohlmeier C.
    PLoS One; 2020 Aug; 15(12):e0244279. PubMed ID: 33382737
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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 23; 53(6):930-938. PubMed ID: 35499124
    [Abstract] [Full Text] [Related]

  • 10. [Misdiagnosis of Gaucher disease in real life: Retrospective study of the French Gaucher's disease registry].
    Perez Y, Belmatoug N, Bengherbia M, Yousfi K, Lioger B.
    Rev Med Interne; 2023 Feb 23; 44(2):55-61. PubMed ID: 36669934
    [Abstract] [Full Text] [Related]

  • 11. 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 23; 52(4):368-373. PubMed ID: 32057684
    [Abstract] [Full Text] [Related]

  • 12. Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male.
    Ramdin T, Schapkaitz E, Varughese S, Sevitz H.
    S Afr Med J; 2022 Feb 02; 112(1):13515. PubMed ID: 35139999
    [Abstract] [Full Text] [Related]

  • 13. [Early diagnosis of Gaucher disease based on bone symptoms].
    Oliveri B, González DC, Rozenfeld P, Ferrari E, Gutiérrez G, Grupo de estudio Bone Involvement Gaucher Disease (BIG).
    Medicina (B Aires); 2020 Feb 02; 80(5):487-494. PubMed ID: 33048793
    [Abstract] [Full Text] [Related]

  • 14. 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 02; 160(6):603-8. PubMed ID: 16754822
    [Abstract] [Full Text] [Related]

  • 15. Gaucher disease. Unusual presentation and mini-review.
    Rizk TM, Ariganjoye RO, Alsaeed GI.
    Neurosciences (Riyadh); 2015 Jul 02; 20(3):271-6. PubMed ID: 26166597
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. Gaucher disease: a diagnostic challenge for internists.
    Cassinerio E, Graziadei G, Poggiali E.
    Eur J Intern Med; 2014 Feb 16; 25(2):117-24. PubMed ID: 24090739
    [Abstract] [Full Text] [Related]

  • 19. Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States.
    Wilson A, Chiorean A, Aguiar M, Sekulic D, Pavlick P, Shah N, Sniderman King L, Génin M, Rollot M, Blanchon M, Gosset S, Montmerle M, Molony C, Dumitriu A.
    Orphanet J Rare Dis; 2023 Sep 09; 18(1):280. PubMed ID: 37689674
    [Abstract] [Full Text] [Related]

  • 20. Gaucher Disease for Hematologists.
    Özdemir GN, Gündüz E.
    Turk J Haematol; 2022 Jun 01; 39(2):136-139. PubMed ID: 35439918
    [Abstract] [Full Text] [Related]

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