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Journal Abstract Search

694 related items for PubMed ID: 15464415

  • 21. Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.
    Goebl A, Ferrier RA, Ferreira P, Pinto-Rojas A, Matshes E, Choy FY.
    Pediatr Dev Pathol; 2011; 14(3):240-3. PubMed ID: 20946052
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  • 22. An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.
    Atrian S, López-Viñas E, Gómez-Puertas P, Chabás A, Vilageliu L, Grinberg D.
    Proteins; 2008 Feb 15; 70(3):882-91. PubMed ID: 17803231
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  • 25. Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.
    Shachar T, Lo Bianco C, Recchia A, Wiessner C, Raas-Rothschild A, Futerman AH.
    Mov Disord; 2011 Aug 01; 26(9):1593-604. PubMed ID: 21618611
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  • 27. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
    Torralba MA, Pérez-Calvo JI, Pastores GM, Cenarro A, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2001 Aug 01; 27(2):489-95. PubMed ID: 11259172
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  • 28. [Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].
    Horovenko NH, Ol'khovych NV, Nedoboĭ AM, Pichkur NO.
    Tsitol Genet; 2007 Aug 01; 41(4):41-7. PubMed ID: 18030725
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  • 29. Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.
    Alfonso P, Pampín S, García-Rodríguez B, Tejedor T, Domínguez C, Rodríguez-Rey JC, Giraldo P, Pocoví M.
    Clin Chim Acta; 2011 Jan 30; 412(3-4):365-9. PubMed ID: 21087600
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  • 30. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2005 Jan 30; 35(2):253-8. PubMed ID: 15967693
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  • 31. Parkinson's disease in patients and obligate carriers of Gaucher disease.
    Becker JG, Pastores GM, Di Rocco A, Ferraris M, Graber JJ, Sathe S.
    Parkinsonism Relat Disord; 2013 Jan 30; 19(1):129-31. PubMed ID: 22940477
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  • 32. Association between Parkinson's disease and glucocerebrosidase mutations in Brazil.
    Spitz M, Rozenberg R, Pereira Lda V, Reis Barbosa E.
    Parkinsonism Relat Disord; 2008 Jan 30; 14(1):58-62. PubMed ID: 17703984
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  • 34. 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
    Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E.
    Am J Med Genet; 1996 Dec 18; 66(3):316-9. PubMed ID: 8985494
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  • 38. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
    Alfonso P, Cenarro A, Pérez-Calvo JI, Giralt M, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2001 Dec 18; 27(5):882-91. PubMed ID: 11783951
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  • 39. Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
    Sidransky E.
    Clin Genet; 2006 Oct 18; 70(4):275-82. PubMed ID: 16965318
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  • 40. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
    Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, van Oers MH, Mannens MM, Aerts JM, van Weely S.
    Hum Mutat; 1997 Oct 18; 10(5):348-58. PubMed ID: 9375849
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