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Journal Abstract Search

182 related items for PubMed ID: 33174353

  • 1. 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; 50(12):1538-1546. PubMed ID: 33174353
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  • 2. 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; 27():100725. PubMed ID: 33604241
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  • 3. 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; 33():100911. PubMed ID: 36092251
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  • 6. 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; 53(6):930-938. PubMed ID: 35499124
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  • 7. A machine learning model for early diagnosis of type 1 Gaucher disease using real-life data.
    Tenenbaum A, Revel-Vilk S, Gazit S, Roimi M, Gill A, Gilboa D, Paltiel O, Manor O, Shalev V, Chodick G.
    J Clin Epidemiol; 2024 Sep 06; 175():111517. PubMed ID: 39245415
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  • 8. 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
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  • 9. 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 09; 82(8):697-701. PubMed ID: 17492645
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  • 11. 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
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  • 12. 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 15; 122(3):122-129. PubMed ID: 28847676
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  • 13. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.
    Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A.
    Arch Intern Med; 2000 Oct 09; 160(18):2835-43. PubMed ID: 11025794
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  • 14. Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.
    Daykin E, Fleischer N, Abdelwahab M, Hassib N, Schiffmann R, Ryan E, Sidransky E.
    Mol Genet Metab; 2021 Nov 09; 134(3):274-280. PubMed ID: 34663554
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  • 17. Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.
    Menkovic I, Boutin M, Alayoubi A, Mercier FE, Rivard GÉ, Auray-Blais C.
    Int J Mol Sci; 2020 Oct 23; 21(21):. PubMed ID: 33114153
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  • 18. Ultrasonographic evaluation of major salivary glands in primary Sjögren's syndrome: comparison of two scoring systems.
    Zhang X, Zhang S, He J, Hu F, Liu H, Li J, Zhu J, Li Z.
    Rheumatology (Oxford); 2015 Sep 23; 54(9):1680-7. PubMed ID: 25936787
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  • 20. [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 Sep 23; 80(5):487-494. PubMed ID: 33048793
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