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Journal Abstract Search

233 related items for PubMed ID: 20206881

  • 21. Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.
    Gumus E, Karhan AN, Hizarcioglu-Gulsen H, Demir H, Ozen H, Saltik Temizel IN, Dokmeci Emre S, Yuce A.
    Eur J Med Genet; 2021 Nov; 64(11):104339. PubMed ID: 34500086
    [Abstract] [Full Text] [Related]

  • 22. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P.
    Blood Cells Mol Dis; 2007 Nov; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 23. Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
    Hollak CE, Belmatoug N, Cole JA, Vom Dahl S, Deegan PB, Goldblatt J, Rosenbloom B, van Dussen L, Tylki-Szymańska A, Weinreb NJ, Zimran A, Cappellini MD.
    Br J Haematol; 2012 Aug; 158(4):528-38. PubMed ID: 22640238
    [Abstract] [Full Text] [Related]

  • 24. Cessation of enzyme replacement therapy in Gaucher disease.
    Grinzaid KA, Geller E, Hanna SL, Elsas LJ.
    Genet Med; 2002 Aug; 4(6):427-33. PubMed ID: 12509713
    [Abstract] [Full Text] [Related]

  • 25. Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials.
    Zimran A, Elstein D, Gonzalez DE, Lukina EA, Qin Y, Dinh Q, Turkia HB.
    Blood Cells Mol Dis; 2018 Feb; 68():153-159. PubMed ID: 27839979
    [Abstract] [Full Text] [Related]

  • 26. 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; 31(6):738-44. PubMed ID: 18979180
    [Abstract] [Full Text] [Related]

  • 27. Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.
    Weinreb NJ, Camelo JS, Charrow J, McClain MR, Mistry P, Belmatoug N, International Collaborative Gaucher Group (ICGG) Gaucher Registry (NCT00358943) investigators.
    Mol Genet Metab; 2021 Feb; 132(2):100-111. PubMed ID: 33485799
    [Abstract] [Full Text] [Related]

  • 28. Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study.
    Zimmermann A, Grigorescu-Sido P, Rossmann H, Lackner KJ, Drugan C, Al Khzouz C, Bucerzan S, Naşcu I, Zimmermann T, Leucuţa D, Weber MM.
    J Inherit Metab Dis; 2013 May; 36(3):555-63. PubMed ID: 22976766
    [Abstract] [Full Text] [Related]

  • 29. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults.
    Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T.
    Blood Cells Mol Dis; 2011 Jan 15; 46(1):66-72. PubMed ID: 21112800
    [Abstract] [Full Text] [Related]

  • 30. Enzyme replacement therapy with imiglucerase in a Taiwanese child with type 1 Gaucher disease.
    Lin HY, Lin SP, Chuang CK, Wraith JE.
    J Chin Med Assoc; 2006 May 15; 69(5):228-32. PubMed ID: 16835986
    [Abstract] [Full Text] [Related]

  • 31. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
    Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, Caillaud C.
    Eur J Hum Genet; 2002 Sep 15; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 32. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease.
    Drelichman G, Ponce E, Basack N, Freigeiro D, Aversa L, Graciela E, Kohan R.
    J Pediatr; 2007 Aug 15; 151(2):197-201. PubMed ID: 17643778
    [Abstract] [Full Text] [Related]

  • 33. [Molecular diagnosis of Gaucher disease in Tunisia].
    Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Amaral O, Sá Miranda MC, Caillaud C, Kaabachi N, Tebib N, Abdelhak S, Ben Dridi MF.
    Pathol Biol (Paris); 2013 Apr 15; 61(2):59-63. PubMed ID: 22542428
    [Abstract] [Full Text] [Related]

  • 34. Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial.
    de Fost M, Aerts JM, Groener JE, Maas M, Akkerman EM, Wiersma MG, Hollak CE.
    Haematologica; 2007 Feb 15; 92(2):215-21. PubMed ID: 17296571
    [Abstract] [Full Text] [Related]

  • 35. [Enzyme replacement therapy in Gaucher disease: monitoring visceral and bone changes with MRI].
    Tóth J, Szücs FZ, Benkö K, Maródi L.
    Orv Hetil; 2003 Apr 20; 144(16):749-55. PubMed ID: 12778625
    [Abstract] [Full Text] [Related]

  • 36. Biomarkers in Serbian patients with Gaucher disease.
    Sumarac Z, Suvajdžić N, Ignjatović S, Majkić-Singh N, Janić D, Petakov M, Dorđević M, Mitrović M, Dajak M, Golubović M, Rodić P.
    Clin Biochem; 2011 Aug 20; 44(12):950-4. PubMed ID: 21640089
    [Abstract] [Full Text] [Related]

  • 37. Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1.
    Cerón-Rodríguez M, Barajas-Colón E, Ramírez-Devars L, Gutiérrez-Camacho C, Salgado-Loza JL.
    Mol Genet Genomic Med; 2018 Jan 20; 6(1):27-34. PubMed ID: 29471591
    [Abstract] [Full Text] [Related]

  • 38. Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia.
    Benedik-Dolničar M, Kitanovski L.
    Pediatr Int; 2011 Dec 20; 53(6):1018-22. PubMed ID: 21883686
    [Abstract] [Full Text] [Related]

  • 39. Pediatric Gaucher experience in South Marmara region of Turkey.
    Erdemır G, Özkan T, Özgür T, Yazici Z, Özdemır Ö.
    Turk J Gastroenterol; 2011 Oct 20; 22(5):500-4. PubMed ID: 22234757
    [Abstract] [Full Text] [Related]

  • 40. 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
    [Abstract] [Full Text] [Related]

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