Page 110 - MEMORIA ANUAL 2019 SEHH-FEHH

GRUPO ESPAñOL DE ENFERMEDADES DE DEPóSITO LISOSOMAL (gEEdl)
MEMORIA ANUAL 2019
SOCIEDAD ESPAÑOLA FUNDACIÓN ESPAÑOLA
DE HEMATOLOGÍA Y HEMOTERAPIA DE HEMATOLOGÍA Y HEMOTERAPIA
• Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, Jennette CJ, Maegawa G, Boyadjiev SA, González D, Nicholls K, Tuffaha A, Atta MG, Rup B, Charney MR, Paz A, Szlaifer M, Alon S, Brill-Almon E, Chertkoff R, Hughes D. Pe- gunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmaco- dynamics: A 1-year Phase 1/2 clinical trial. J Inherit Metab Dis. 2019;42(3):534-44. doi: 10.1002/jimd.12080.
• Cebolla JJ, Irún P, Mozas P, Giraldo P. Evaluation of two approaches to lysosom- al acid lipase deficiency patient identification: an observational retrospective study. Atherosclerosis. 2019;285:49-54. doi: 10.1016/j.atherosclerosis.2019.03.013.
• Zimran A, Durán G, Giraldo P, Rosenbaum H, Giona F, Petakov M, Terreros Muñoz E, Solorio-Meza SE, Cooper PA, Varughese S, Alon S, Chertkoff R. Long-term efficacy and safety results of taliglucerase alfa through 5years in adult treatment-naïve patients with Gaucher disease. Blood Cells Mol Dis. 2019;78:14-21. doi: 10.1016/j. bcmd.2016.07.002.
• Muñoz G, García-Seisdedos D, Ciubotariu C, Piris-Villaespesa M, Gandía M, Martín- Moro F, Gutiérrez-Solana LG, Morado M, López-Jiménez J, Sánchez-Herranz A, Villa- rrubia J, Del Castillo FJ. Early detection of lysosomal diseases by screening of cas- es of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel. JIMD Rep. 2019;51(1):53-61. doi: 10.1002/jmd2.12078.
• López de Frutos L, Cebolla JJ, Irún P, Köhler R, Giraldo P. Web-Based Bioinformat- ics Predictors: Recommendations to Assess Lysosomal Cholesterol Trafficking Diseases-Related Genes. Methods Inf Med. 2019;58(1):50-9. doi: 10.1055/s-0039- 1692463.
Presentaciones orales en congresos internacionales
• Giraldo P, Cebolla J, López de Frutos L, López-Royo MP, Roca-Espiau M. Strain- elastography in musculoskeletal evaluation in Gaucher disease. 15th Annual WORLD Symposium. Orlando, Florida (Estados Unidos), del 4 al 8 de febrero de 2019.
• Giraldo P. Presentación de un caso de afectación musculoesquelética de difí- cil diagnóstico. 3rd Meeting “Recent Advances in Rare Disease – RARD: Frequently
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