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www.ciberer.es
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Most relevant alFonso P, naVascués J, naVarro s, Medina P, bolado-carrancio a, andreu V, irún P, rodríGuez-
rey Jc, PocoVí M, esPaña F, Giraldo P. Characterization of variants in the glucosylcera-
scientific mide synthase gene and their association with type 1 Gaucher disease severity. Hum
articles
Mutat.2013;34:1396-403.
• Mateos MV, hernández Mt, Giraldo P et al. Lenalidomide plus dexamethasone for high-risk
smoldering multiple myeloma. N Engl J Med. 2013;369: 438-47.
• alFonso P, andreu V, Pino-anGeles a, Moya-García aa, García-Moreno Mi, rodríGuez-rey Jc,
s-J F, P M, o M c, G F JM, G P. Bicyclic deri-
áncheziMénezocoVírtizelletarcíaernándeziraldo
vatives of L-idonojirimycin as pharmacological chaperones for neuronopathic forms of
Gaucher disease. Chembiochem. 2013;14: 943-9.
• ben turkia h, González de, barton nW, ziMran a, kabra M, lukina ea, Giraldo P et al. Vela-
glucerase alfa enzyme replacement therapy compared with imiglucerase in patients with
Gaucher disease. Am J Hematol. 2013; 88:179-84.
• irun P, Mallén M, doMinGuez c, rodríGuez-sureda V, alVarez-sala la, arslan n, berMeJo n, Gue-
rrero c, Perez de soto i, Villalón l, Giraldo P, PocoVi M. Identification of seven novel SMPD1
ó
mutations causing Niemann-Pick disease types A and B. Clin Genet. 2013;84:356-61.
PROJECTS FUNDED IN COMPETITIVE CALLS: 1.-FIS PS12/01219. 2.-Etnographic study WP7 ó
Highlights
of EUCERD Joint Action. 3.-Spanish IRDiRC project IISCIII. 4.-Strategic Action in Health Rio
Hortega. 2013. Marcio Andrade Campos CM13/00330.
PROJECTS FUNDED BY COMPANIES: 1.-IIR-ESP-000140 (2013-2014). 2.-L-GENZ-E 003
(2011-2013). 3.-IS12/0004 (2012-2013). 4.-SEGAVELA-VEL-2011-01 (2012-2014). 5.-FAVIO
(2011-2013). 6.-Assesment of bone disease and Gaucher disease (2011-2014). 7.-Mutations
& polimorphism in NPC1 & NPC2 genes (2011-2013). 8.-Analysis of intestinal sacharidases
profile (2012-2014).
CLINICAL TRIALS: 1.-AT1001-011(2011-2013). 2.-PB-06-007 (2008-2013). 3.-CAM-
N107A2303 (2008-2013). 4.-GZGD02607 (2008-2014). 5.-CINC424A2401 (2011-2014).
6.-PB-102-F01 (2013-2015).
PATENTS: 1.-61/638.837 (PE-04581). 2.-P201230804.
PRESENTATIONS IN MEETINGS AND FULL CONFERENCES 2013:
4 at Lysosomal Disease Network. 9th Annual WORLD Symposium. Orlando.
An oral at VI REUNION ANUAL CIBERER El Escorial.
2 at XXVII Congreso Nacional de la AEGH. Madrid.
3 at18th Congress de la EHA. Stockholm, Sweden.
8 and a conference at 12th ICIEM. Barcelona.
2 conferences at Symposium: Gaucher Disease in Foco. Coimbra, Portugal.
3 at LV Reunin Nacional de la SEHH y XXIX Congreso Nacional de la SETH. Sevilla.
2 at ASH Annual Meeting and Exposition. New Orleans, USA.
CLINICAL GUIDELINES:
- National guidelines for the management of patients with chronic lymphocytic leukemia.
Med Clin; 2013 .141:175.e1-8
- Spanish Guidelines in Gaucher Disease. http://www.ciberer.es
13
CONTINUED EDUCATION 2013: 20
T
DOCTORAL THESIS: Functional study of the GLA gene variants. Javier Gervas Arruga. OR
íP
11/01/2013. Suitable cum laude. Dir: Pilar Giraldo Castellano, Miguel Pocov Mieras RE
• Course Rare Metabolic Diseases. Universidad de Zaragoza. L
A
• Master Rare Diseases. Modulo rare hematological disorders. Universidad Pablo Olavide. NU
Sevilla. N
A
• 17 y 18 Update in Lysosomal disorders for foreing doctors Hospital Universitario Miguel R /
Servet. Zaragoza. Mayo y Septiembre. Zaragoza. E
ER
• Advancing knowledge of Gaucher Disease. Mexico DF. B
CI
• First Latin America Symposium: “Gaucher Disease Today” Santiago, Chile.
• “Second Course of Medical Education: Gaucher disease, diagnosis and current treatments”,
169
Asuncin del Paraguay.
• 1st Meeting of Fellows in Gaucher Disease. Santa Marta. Mexico.
