These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
103 related articles for article (PubMed ID: 9637431)
21. Gaucher disease: report of de novo GBA mutation in a Spanish family. Alfonso P; Pocovi M; Giraldo P Blood Cells Mol Dis; 2008; 40(3):444-5. PubMed ID: 18313951 [No Abstract] [Full Text] [Related]
22. 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]
23. [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]
24. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. Amaral O; Marcão A; Sá Miranda M; Desnick RJ; Grace ME Eur J Hum Genet; 2000 Feb; 8(2):95-102. PubMed ID: 10757640 [TBL] [Abstract][Full Text] [Related]
25. [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]
26. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations. Pomponio RJ; Cabrera-Salazar MA; Echeverri OY; Miller G; Barrera LA Mol Genet Metab; 2005 Dec; 86(4):466-72. PubMed ID: 16185907 [TBL] [Abstract][Full Text] [Related]
29. 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]
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; 35(2):253-8. PubMed ID: 15967693 [TBL] [Abstract][Full Text] [Related]
31. Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray. Ezgu F; Hasanoglu A; Okur I; Biberoglu G; Tumer L; Eminoglu T; Dogan H Blood Cells Mol Dis; 2008; 40(2):246-7. PubMed ID: 18035560 [No Abstract] [Full Text] [Related]
34. Divergent phenotypes in Gaucher disease implicate the role of modifiers. Goker-Alpan O; Hruska KS; Orvisky E; Kishnani PS; Stubblefield BK; Schiffmann R; Sidransky E J Med Genet; 2005 Jun; 42(6):e37. PubMed ID: 15937077 [TBL] [Abstract][Full Text] [Related]
35. [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]
36. The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. Zimran A; Neudorfer O; Elstein D N Engl J Med; 2005 Feb; 352(7):728-31; author reply 728-31. PubMed ID: 15719452 [No Abstract] [Full Text] [Related]
37. Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. Amaral O; Pinto E; Fortuna M; Lacerda L; Sá Miranda MC Hum Mutat; 1996; 8(3):280-1. PubMed ID: 8889591 [No Abstract] [Full Text] [Related]
38. Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays. Dominissini S; Buratti E; Bembi B; Baralle M; Pittis MG Hum Mutat; 2006 Jan; 27(1):119. PubMed ID: 16329099 [TBL] [Abstract][Full Text] [Related]
39. [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]
40. New perspectives in type 2 Gaucher disease. Sidransky E Adv Pediatr; 1997; 44():73-107. PubMed ID: 9265968 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]