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Journal Abstract Search

250 related items for PubMed ID: 18979180

  • 1. 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]

  • 2. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.
    Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA.
    Am J Hum Genet; 1993 Jun; 52(6):1094-101. PubMed ID: 8503443
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  • 3. Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.
    Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ.
    Arch Intern Med; 2010 Sep 13; 170(16):1463-9. PubMed ID: 20837833
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  • 4. Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
    Elstein D, Scott CR, Zeigler M, Abrahamov A, Zimran A.
    Genet Test; 2005 Sep 13; 9(1):26-9. PubMed ID: 15857183
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  • 5. Baseline characteristics of 32 patients with Gaucher disease who were treated with imiglucerase: South African data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
    Sevittz H, Laher F, Varughese ST, Nel M, McMaster A, Jacobson BF.
    S Afr Med J; 2022 Feb 02; 112(1):13518. PubMed ID: 35140000
    [Abstract] [Full Text] [Related]

  • 6. Phenotype variations in Gaucher disease.
    Mistry P, Germain DP.
    Rev Med Interne; 2006 Mar 02; 27 Suppl 1():S3-10. PubMed ID: 16644399
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  • 7. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
    Sobreira E, Pires RF, Cizmarik M, Grabowski GA.
    Mol Genet Metab; 2007 Jan 02; 90(1):81-6. PubMed ID: 16996765
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  • 9. Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned?
    Eitan Y, Abrahamov A, Phillips M, Elstein D, Zimran A.
    Prenat Diagn; 2010 Oct 02; 30(10):924-7. PubMed ID: 20721872
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  • 10. 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 02; 10(9):511-5. PubMed ID: 12173027
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  • 11. [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 02; 61(2):59-63. PubMed ID: 22542428
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  • 12. High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.
    Torralba MA, Alfonso P, Pérez-Calvo JI, Cenarro A, Pastores GM, Giraldo P, Civeira F, Pocoví M.
    Blood Cells Mol Dis; 2002 Apr 02; 29(1):35-40. PubMed ID: 12482401
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  • 13. Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
    Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A.
    Am J Med Genet; 1997 Jun 27; 70(4):437-43. PubMed ID: 9182788
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  • 14. Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
    Lepe-Balsalobre E, Santotoribio JD, Nuñez-Vazquez R, García-Morillo S, Jiménez-Arriscado P, Hernández-Arévalo P, Delarosa-Rodríguez R, Guerrero JM, Macher HC.
    Clin Chem Lab Med; 2020 Jun 25; 58(12):2017-2024. PubMed ID: 32589593
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  • 15. Gaucher disease: pediatric concerns.
    Elstein D, Abrahamov A, Dweck A, Hadas-Halpern I, Zimran A.
    Paediatr Drugs; 2002 Jun 25; 4(7):417-26. PubMed ID: 12083970
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  • 16. Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1.
    Grigorescu-Sido P, Drugan C, Alkhzouz C, Zimmermann A, Coldea C, Denes C, Grigorescu MD, Cret V, Bucerzan S.
    Eur J Intern Med; 2010 Apr 25; 21(2):104-13. PubMed ID: 20206881
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  • 20. T cell numbers relate to bone involvement in Gaucher disease.
    Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M.
    Blood Cells Mol Dis; 1999 Apr 25; 25(2):130-8. PubMed ID: 10389595
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