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Page 1
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).
Stepien KM, Gevorkyan AK, Hendriksz CJ, Lobzhanidze TV, Pérez-López J, Tol G, Del Toro Riera M, Vashakmadze ND, Lampe C. Stepien KM, et al. Among authors: del toro riera m. Orphanet J Rare Dis. 2020 May 14;15(1):114. doi: 10.1186/s13023-020-01382-z. Orphanet J Rare Dis. 2020. PMID: 32410642 Free PMC article.
Intrathecal cyclodextrin in the treatment of Niemann-Pick disease type C.
Roch Santed M, Cabañas Poy MJ, Del Toro Riera M, Cañete Ramírez C, Fernández Polo A, Clemente Bautista S. Roch Santed M, et al. Among authors: del toro riera m. Eur J Hosp Pharm. 2017 May;24(3):185-188. doi: 10.1136/ejhpharm-2016-001067. Epub 2016 Nov 4. Eur J Hosp Pharm. 2017. PMID: 31156935 Free PMC article.
[A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain].
Raspall-Chaure M, Solano A, Vázquez E, Macaya-Ruiz A, del Toro-Riera M, Cabezuelo-Briones A, Montoya J, Andreu A, Roig-Quilis M. Raspall-Chaure M, et al. Among authors: del toro riera m. Rev Neurol. 2004 Dec 16-31;39(12):1129-32. Rev Neurol. 2004. PMID: 15625630 Free article. Spanish.
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: del toro riera m. 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
[Epilepsy and hair alterations in a neonate].
Martín Nalda A, Raspall Chaure M, del Toro Riera M, Macaya Ruiz A, Roig Quilis M. Martín Nalda A, et al. Among authors: del toro riera m. An Pediatr (Barc). 2005 Oct;63(4):383-4. doi: 10.1157/13079831. An Pediatr (Barc). 2005. PMID: 16219269 Free article. Spanish. No abstract available.
24 results