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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. Torralba MA, et al. Among authors: giraldo p. Blood Cells Mol Dis. 2002 Jul-Aug;29(1):35-40. doi: 10.1006/bcmd.2002.0535. Blood Cells Mol Dis. 2002. PMID: 12482401
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A; International Collaborative Gaucher Group (ICGG). Weinreb NJ, et al. Among authors: giraldo p. Semin Hematol. 2004 Oct;41(4 Suppl 5):15-22. doi: 10.1053/j.seminhematol.2004.07.010. Semin Hematol. 2004. PMID: 15468046
395 results