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Page 1
Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.
Carnicer-Cáceres C, Villena-Ortiz Y, Castillo-Ribelles L, Barquín-Del-Pino R, Camprodon-Gomez M, Felipe-Rucián A, Moreno-Martínez D, Lucas-Del-Pozo S, Hernández-Vara J, García-Serra A, Tigri-Santiña A, Moltó-Abad M, Agraz-Pamplona I, Rodriguez-Palomares JF, Limeres-Freire J, Macaya-Font M, Rodríguez-Sureda V, Miguel LD, Del-Toro-Riera M, Pintos-Morell G, Arranz-Amo JA. Carnicer-Cáceres C, et al. Among authors: felipe rucian a. Blood Cells Mol Dis. 2023 Jan;98:102704. doi: 10.1016/j.bcmd.2022.102704. Epub 2022 Oct 5. Blood Cells Mol Dis. 2023. PMID: 36265282
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.
Rovira-Remisa MM, Moreira M, Ventura PS, Gonzalez-Alvarez P, Mestres N, Graterol Torres F, Joaquín C, Seuma AR, Del Mar Martínez-Colls M, Roche A, Ibáñez-Micó S, López-Laso E, Méndez-Hernández MJ, Murillo M, Monlleó-Neila L, Maqueda-Castellote E, Del Toro Riera M, Felipe-Rucián A, Giralt-López M, Cortès-Saladelafont E. Rovira-Remisa MM, et al. Among authors: felipe rucian a. Mol Genet Metab Rep. 2023 Jun;35:100962. doi: 10.1016/j.ymgmr.2023.100962. Epub 2023 Mar 6. Mol Genet Metab Rep. 2023. PMID: 36909454 Free PMC article.
[Enterovirus and neurological complications].
Macaya A, Felipe-Rucián A. Macaya A, et al. An Pediatr (Barc). 2017 Mar;86(3):107-109. doi: 10.1016/j.anpedi.2017.01.001. Epub 2017 Jan 27. An Pediatr (Barc). 2017. PMID: 28139410 Free article. Spanish. No abstract available.
"Leukodystrophy-Like" Phenotype in Anti-MOG Antibody-Associated Disorders.
Ortiz de Zarate Z, Felipe-Rucián A, Sánchez-Montáñez Á, Armangué T, Gómez-Andrés D. Ortiz de Zarate Z, et al. Neuropediatrics. 2022 Apr;53(2):147-148. doi: 10.1055/a-1740-9649. Epub 2022 Mar 8. Neuropediatrics. 2022. PMID: 35030636 No abstract available.
[Treatment of pneumococcal meningitis with dexamethasone].
Felipe Rucián A, García Del Cerro G, Coll Usandizaga F, Tobeña Rué M, Martínez Gómez X, Moraga-Llop FA. Felipe Rucián A, et al. An Pediatr (Barc). 2011 Jan;74(1):38-41. doi: 10.1016/j.anpedi.2010.08.013. Epub 2010 Dec 17. An Pediatr (Barc). 2011. PMID: 20888310 Free article. Spanish.
EPITRANS. Quality assessment of the epilepsy transition process.
Ortiz de Zarate Z, Fonseca E, Abraira L, Santamarina E, Campos-Fernández D, Quintana M, Sánchez J, Goméz-Andrés D, Sala J, Raspall M, Felipe-Rucián A, Del Toro M, Macaya A, Toledo M. Ortiz de Zarate Z, et al. Among authors: felipe rucian a. Eur J Paediatr Neurol. 2024 Jan;48:121-128. doi: 10.1016/j.ejpn.2024.01.004. Epub 2024 Jan 12. Eur J Paediatr Neurol. 2024. PMID: 38241904
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