1) Giraldo P, López de Frutos L, Cebolla JJ. Biomarker combination is necessary for the assessment of Gaucher disease? Ann Transl Med. 2018 Nov;6(Suppl 1):S81.
2) López de Frutos L, Cebolla JJ, Irún P, Köhler R, Giraldo P. The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases. Clin Chim Acta. 2018 May;480:161-165.
3) López de Frutos L, Romero-Imbroda J, Rodríguez-Sureda V, Giraldo P. New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation. Neurologia. 2017 Aug 30. pii: S0213-4853(17)30253-0.
4) Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, et al. Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease. Orphanet J Rare Dis. 2017 May 3;12(1):84.
5) Oliván-Viguera A, Lozano-Gerona J, López de Frutos L, Cebolla JJ, Irún P, Abarca-Lachen E, et al. Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C. Front Physiol. 2017 Jan 31;8:39.
6) Giraldo P, Andrade-Campos M, Alfonso P, Irun P, Atutxa K, Acedo A, et al. Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project. Blood Cells Mol Dis. 2018 Feb;68:173-179.
7) Andrade-Campos M, Valero E, Roca M, Giraldo P; Spanish group on Gaucher Disease. The utility of magnetic resonance imaging for bone involvement in Gaucher disease. Assessing more than bone crises. Blood Cells Mol Dis. 2018 Feb;68:126-134
8) Gervas-Arruga J, Cebolla JJ, Irun P, Perez-Lopez J, Plaza L, Roche JC, et al. Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene. BMC Genet. 2015 Sep 3;16:109.
9) Gervas-Arruga J, Cebolla JJ, de Blas I, Roca M, Pocovi M, Giraldo P. The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease. PLoS One. 2015 May 15;10(5):e0126153.
10) Medrano-Engay B, Irun P, Gervas-Arruga J, Andrade-Campos M, Andreu V, Alfonso P, Pocovi M, Giraldo P. Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease. Blood Cells Mol Dis. 2014 Dec;53(4):171-5.
11) Irún P, Alfonso P, Aznarez S, Giraldo P, Pocovi M. Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring. Clin Biochem. 2013 Dec;46(18):1804-7.
12) Alfonso P, Navascués J, Navarro S, Medina P, Bolado-Carrancio A, Andreu V, et al. Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity. Hum Mutat. 2013 Oct;34(10):1396-403.
13) Alfonso P, Andreu V, Pino-Angeles A, Moya-García AA, García-Moreno MI, Rodríguez-Rey Jc et al. Bicyclic derivatives of L-idonojirimycin as pharmacological chaperones for neuronopathic forms of Gaucher disease. Chembiochem. 2013 May 27;14(8):943-9.
14) Irun P, Mallén M, Dominguez C, Rodriguez-Sureda V, Alvarez-Sala LA, Arslan N, et al. Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. Clin Genet. 2013 Oct;84(4):356-61.
15) Barrett MJ, Giraldo P, Capablo JL, Alfonso P, Irun P, Garcia-Rodriguez B, et al. Greater risk of parkinsonism associated with non-N370S GBA1 mutations. J Inherit Metab Dis. 2013 May;36(3):575-80.
16) Giraldo P, Alfonso P, Irún P, Gort L, Chabás A, Vilageliu L, et al. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet J Rare Dis. 2012 Mar 19;7:17. ¡
17) Giraldo P; Grupo de Trabajo de las Guías de Actuación. [Guidelines for type 1 Gaucher’s disease]. Med Clin (Barc). 2011 Sep;137 Suppl 1:55-60.
18) García-Rodríguez B, Alfonso P, Mallén M, Pocoví M, Giraldo P. Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population. Clin Genet. 2012 May;81(5):495-7.
19) Giraldo P, Capablo JL, Alfonso P, Garcia-Rodriguez B, Latre P, Irun P, et al. Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence? J Inherit Metab Dis. 2011 Jun;34(3):781-7.
20) Puzo J, Alfonso P, Irun P, Gervas J, Pocovi M, Giraldo P. Changes in the atherogenic profile of patients with type 1 Gaucher disease after miglustat therapy. Atherosclerosis. 2010 Apr;209(2):515-9.
21) Alfonso P, Pocovi M, Giraldo P. Gaucher disease: report of de novo GBA mutation in a Spanish family. Blood Cells Mol Dis. 2008 May-Jun;40(3):444-5.
22) López M, Giraldo P, Alvarez P, Cornudella R, Pocoví M, Martínez A, et al. Multiplex assay for genetic testing of thrombophilia: a method for routine clinical care. J Clin Lab Anal. 2007;21(6):349-55..
23) Alfonso P, Aznarez S, Giralt M, Pocovi M, Giraldo P; Spanish Gaucher’s Disease Registry. Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. J Hum Genet. 2007;52(5):391-6
24) Roca M, Mota J, Alfonso P, Pocoví M, Giraldo P. S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease. Eur J Radiol. 2007 Apr;62(1):132-7.
25) Alfonso P, Cenarro A, Pérez-Calvo JI, Giralt M, Giraldo P, Pocoví M. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations. Blood Cells Mol Dis. 2001 Sep-Oct;27(5):882-91.
26) Giraldo P, Cenarro A, Alfonso P, Pérez-Calvo JI, Rubio-Félix D, Giralt M, Pocoví M. Chitotriosidase genotype and plasma activity in patients type 1 Gaucher’s disease and their relatives (carriers and non carriers). Haematologica. 2001 Sep;86(9):977-84.
27) Giraldo P, Pocoví M, Pérez-Calvo J, Rubio-Félix D, Giralt M. Report of the Spanish Gaucher’s disease registry: clinical and genetic characteristics. Haematologica. 2000 Aug;85(8):792-9.
28) Sarria AJ, Giraldo P, Perez-Calvo JI, Pocoví M. Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online. Hum Mutat. 1999;14(1):88.