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2. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. Tsuji S; Choudary PV; Martin BM; Stubblefield BK; Mayor JA; Barranger JA; Ginns EI N Engl J Med; 1987 Mar; 316(10):570-5. PubMed ID: 2880291 [TBL] [Abstract][Full Text] [Related]
3. Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase. Dahl N; Erikson A; Hammarström-Heeroma K; Pettersson U Genomics; 1988 Nov; 3(4):296-8. PubMed ID: 2468600 [TBL] [Abstract][Full Text] [Related]
4. Gaucher's disease: advances and challenges. Martin BM; Sidransky E; Ginns EI Adv Pediatr; 1989; 36():277-306. PubMed ID: 2675571 [No Abstract] [Full Text] [Related]
5. Gaucher's disease. Beaudet AL N Engl J Med; 1987 Mar; 316(10):619-21. PubMed ID: 3807955 [No Abstract] [Full Text] [Related]
6. Type I Gaucher's disease with homozygous R463C mutation without neurological involvement. Bolaman Z; Kadikoylu G; Levi E; Barutca S; Temucin K Haematologia (Budap); 2002; 32(4):487-93. PubMed ID: 12803123 [TBL] [Abstract][Full Text] [Related]
7. Molecular biology of glucocerebrosidase and the treatment of Gaucher disease. Barranger JA; Tomich J; Weiler S; Sakallah S; Sansieri C; Mifflin T; Bahnson A; Wei FS; Wei JF; Vallor M Cytokines Mol Ther; 1995 Sep; 1(3):149-63. PubMed ID: 9384672 [TBL] [Abstract][Full Text] [Related]
8. Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts. Choudary PV; Barranger JA; Tsuji S; Mayor J; LaMarca ME; Cepko CL; Mulligan RC; Ginns EI Mol Biol Med; 1986 Jun; 3(3):293-9. PubMed ID: 3736391 [TBL] [Abstract][Full Text] [Related]
9. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Tybulewicz VL; Tremblay ML; LaMarca ME; Willemsen R; Stubblefield BK; Winfield S; Zablocka B; Sidransky E; Martin BM; Huang SP Nature; 1992 Jun; 357(6377):407-10. PubMed ID: 1594045 [TBL] [Abstract][Full Text] [Related]
10. Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease. Park HW; Lee Y; Kim GH; Lee BS; Kim KS; Yoo HW; Kim EA Gene; 2012 Oct; 507(2):170-3. PubMed ID: 22772462 [TBL] [Abstract][Full Text] [Related]
11. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. Zimran A; Sorge J; Gross E; Kubitz M; West C; Beutler E J Clin Invest; 1990 Jan; 85(1):219-22. PubMed ID: 2295698 [TBL] [Abstract][Full Text] [Related]
12. [Genetics of Gaucher's disease. Genotype-phenotype correlation]. Alfonso Palacín P; Pocoví M Med Clin (Barc); 2011 Sep; 137 Suppl 1():17-22. PubMed ID: 22230121 [TBL] [Abstract][Full Text] [Related]
13. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent. Choy FY; Wei C; Applegarth DA; McGillivray BC Am J Med Genet; 1994 Jun; 51(2):156-60. PubMed ID: 7916532 [TBL] [Abstract][Full Text] [Related]
14. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Zimran A; Sorge J; Gross E; Kubitz M; West C; Beutler E Lancet; 1989 Aug; 2(8659):349-52. PubMed ID: 2569551 [TBL] [Abstract][Full Text] [Related]
15. [Gene therapy of Gaucher's and Fabry's diseases: current status and prospects]. Fabrega S; Lehn P J Soc Biol; 2002; 196(2):175-81. PubMed ID: 12360746 [TBL] [Abstract][Full Text] [Related]
16. Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype. Church HJ; Cooper A; Stewart F; Thornton CM; Wraith JE Eur J Hum Genet; 2004 Nov; 12(11):975-8. PubMed ID: 15292921 [TBL] [Abstract][Full Text] [Related]
17. Isozymes of beta-glucosidase: determination of Gaucher's disease phenotypes. Ginns EI; Erickson A; Tegelaers FP; Barneveld R; Reuser AJ; Brady RO; Tager JM; Barranger JA Isozymes Curr Top Biol Med Res; 1983; 11():83-93. PubMed ID: 6417048 [No Abstract] [Full Text] [Related]
19. Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene. Sorge J; Gelbart T; West C; Westwood B; Beutler E Proc Natl Acad Sci U S A; 1985 Aug; 82(16):5442-5. PubMed ID: 2991926 [TBL] [Abstract][Full Text] [Related]
20. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. Orvisky E; Park JK; Parker A; Walker JM; Martin BM; Stubblefield BK; Uyama E; Tayebi N; Sidransky E Hum Mutat; 2002 Apr; 19(4):458-9. PubMed ID: 11933202 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]