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4. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. Emre S; Gürakan F; Yüce A; Rolf A; Scott R; Ozen H Eur J Med Genet; 2008; 51(4):315-21. PubMed ID: 18586596 [TBL] [Abstract][Full Text] [Related]
5. 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; 10(9):511-5. PubMed ID: 12173027 [TBL] [Abstract][Full Text] [Related]
6. [Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease]. Dandana A; Ferchichi S; Ben Khelifa S; Jaidane Z; Monastiri K; Chkioua L; Maire I; Froissart R; Bonnet V; Laradi S; Miled A Pathol Biol (Paris); 2008 Mar; 56(2):88-93. PubMed ID: 18178337 [TBL] [Abstract][Full Text] [Related]
7. Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). Bodamer OA; Church HJ; Cooper A; Wraith JE; Scott CR; Scaglia F Am J Med Genet; 2002 May; 109(4):328-31. PubMed ID: 11992489 [TBL] [Abstract][Full Text] [Related]
8. [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; 41(4):41-7. PubMed ID: 18030725 [TBL] [Abstract][Full Text] [Related]
9. 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; 38(3):287-93. PubMed ID: 17196853 [TBL] [Abstract][Full Text] [Related]
10. [From gene to disease; Gaucher disease]. Hollak CE; Boot RG; Poorthuis BJ; Aerts JM Ned Tijdschr Geneeskd; 2005 Sep; 149(39):2163-6. PubMed ID: 16223076 [TBL] [Abstract][Full Text] [Related]
11. Gaucher disease in Tunisia: High frequency of the most common mutations. Cherif W; Ben Turkia H; Ben Rhouma F; Riahi I; Chemli J; Kefi R; Messai H; Amaral O; Miranda MC; Caillaud C; Tebib N; Ben Dridi MF; Abdelhak S Blood Cells Mol Dis; 2009; 43(2):161-2. PubMed ID: 19553144 [No Abstract] [Full Text] [Related]
12. Type 2 gaucher disease: an expanding phenotype. Tayebi N; Stone DL; Sidransky E Mol Genet Metab; 1999 Oct; 68(2):209-19. PubMed ID: 10527671 [No Abstract] [Full Text] [Related]
13. [Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity]. Beĭer EM; Bukina TM; Tsvetkova IV Vopr Med Khim; 2000; 46(5):451-4. PubMed ID: 11204625 [TBL] [Abstract][Full Text] [Related]