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Journal Abstract Search

148 related items for PubMed ID: 37685353

  • 21. Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients.
    Menkovic I, Boutin M, Alayoubi A, Curado F, Bauer P, Mercier FE, Rivard GÉ, Auray-Blais C.
    Bioanalysis; 2022 Feb; 14(4):223-240. PubMed ID: 35118875
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  • 22. 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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  • 23. Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease.
    Charkhand B, Scantlebury MH, Narita A, Zimran A, Al-Hertani W.
    Mol Genet Metab Rep; 2019 Sep; 20():100476. PubMed ID: 31467847
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  • 28. Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
    Rolfs A, Giese AK, Grittner U, Mascher D, Elstein D, Zimran A, Böttcher T, Lukas J, Hübner R, Gölnitz U, Röhle A, Dudesek A, Meyer W, Wittstock M, Mascher H.
    PLoS One; 2013 Sep; 8(11):e79732. PubMed ID: 24278166
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  • 29. Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.
    Dubiela P, Szymańska-Rożek P, Eljaszewicz A, Lipiński P, Hasiński P, Giersz D, Walewska A, Tynecka M, Moniuszko M, Tylki-Szymańska A.
    Biomolecules; 2023 Apr 03; 13(4):. PubMed ID: 37189391
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  • 30. 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 03; 123(3):357-363. PubMed ID: 29361370
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  • 31. Abdominal lymphadenopathy in children with Gaucher disease: Relation to disease severity and glucosylsphingosine.
    Tantawy AAG, Adly AAM, Atif HM, Madkour SS, Salah NY.
    Pediatr Hematol Oncol; 2022 May 03; 39(4):304-317. PubMed ID: 34668825
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  • 32. Glucosylsphingosine is a key biomarker of Gaucher disease.
    Murugesan V, Chuang WL, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK.
    Am J Hematol; 2016 Nov 03; 91(11):1082-1089. PubMed ID: 27441734
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  • 33. Expanding the clinical utility of glucosylsphingosine for Gaucher disease.
    Saville JT, McDermott BK, Chin SJ, Fletcher JM, Fuller M.
    J Inherit Metab Dis; 2020 May 03; 43(3):558-563. PubMed ID: 31707742
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  • 34. TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease.
    Ivanova M, Dao J, Noll L, Fikry J, Goker-Alpan O.
    J Clin Med; 2021 May 20; 10(10):. PubMed ID: 34065531
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  • 36. The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease.
    Ivanova MM, Dao J, Loynab N, Noor S, Kasaci N, Friedman A, Goker-Alpan O.
    Cells; 2024 Apr 20; 13(8):. PubMed ID: 38667330
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  • 38. Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease.
    Rasmussen CA, Quadri A, Vucko E, Kim K, Hickey R, Baker JJ, Charrow J, Prada CE.
    Mol Genet Metab; 2024 Jan 20; 141(1):107736. PubMed ID: 38000346
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  • 40. Bone disease in early detected Gaucher Type I disease: A case report.
    Gragnaniello V, Burlina AP, Manara R, Cazzorla C, Rubert L, Gueraldi D, Toniolli E, Quaia E, Burlina AB.
    JIMD Rep; 2022 Sep 20; 63(5):414-419. PubMed ID: 36101816
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