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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: moreno martinez d. 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
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.
Carnicer-Cáceres C, Arranz-Amo JA, Cea-Arestin C, Camprodon-Gomez M, Moreno-Martinez D, Lucas-Del-Pozo S, Moltó-Abad M, Tigri-Santiña A, Agraz-Pamplona I, Rodriguez-Palomares JF, Hernández-Vara J, Armengol-Bellapart M, Del-Toro-Riera M, Pintos-Morell G. Carnicer-Cáceres C, et al. J Clin Med. 2021 Apr 13;10(8):1664. doi: 10.3390/jcm10081664. J Clin Med. 2021. PMID: 33924567 Free PMC article. Review.
Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
Lucas-Del-Pozo S, Moreno-Martinez D, Camprodon-Gomez M, Moreno-Martinez D, Hernández-Vara J. Lucas-Del-Pozo S, et al. Among authors: moreno martinez d. Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S37-S39. doi: 10.1002/mdc3.13295. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34514046 Free PMC article. No abstract available.
Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
Friedman J, Lucas-Del-Pozo S, Moreno-Martinez D, Camprodon-Gomez M, Moreno-Martinez D, Hernandez-Vara J, Kurian MA. Friedman J, et al. Among authors: moreno martinez d. Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S40-S41. doi: 10.1002/mdc3.13304. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34514047 Free PMC article. No abstract available.
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Quijada-Fraile P, Arranz Canales E, Martín-Hernández E, Ballesta-Martínez MJ, Guillén-Navarro E, Pintos-Morell G, Moltó-Abad M, Moreno-Martínez D, García Morillo S, Blasco-Alonso J, Couce ML, Gil Sánchez R, Cortès-Saladelafont E, López Rodríguez MA, García-Silva MT, Morales Conejo M. Quijada-Fraile P, et al. Among authors: moreno martinez d. Orphanet J Rare Dis. 2021 Nov 3;16(1):464. doi: 10.1186/s13023-021-02074-y. Orphanet J Rare Dis. 2021. PMID: 34732228 Free PMC article.
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.
Moreno-Martinez D, Aguiar P, Auray-Blais C, Beck M, Bichet DG, Burlina A, Cole D, Elliott P, Feldt-Rasmussen U, Feriozzi S, Fletcher J, Giugliani R, Jovanovic A, Kampmann C, Langeveld M, Lidove O, Linhart A, Mauer M, Moon JC, Muir A, Nowak A, Oliveira JP, Ortiz A, Pintos-Morell G, Politei J, Rozenfeld P, Schiffmann R, Svarstad E, Talbot AS, Thomas M, Tøndel C, Warnock D, West ML, Hughes DA. Moreno-Martinez D, et al. Mol Genet Metab. 2021 Apr;132(4):234-243. doi: 10.1016/j.ymgme.2021.02.001. Epub 2021 Feb 20. Mol Genet Metab. 2021. PMID: 33642210
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.
Toffoli M, Chohan H, Mullin S, Jesuthasan A, Yalkic S, Koletsi S, Menozzi E, Rahall S, Limbachiya N, Loefflad N, Higgins A, Bestwick J, Lucas-Del-Pozo S, Fierli F, Farbos A, Mezabrovschi R, Lee-Yin C, Schrag A, Moreno-Martinez D, Hughes D, Noyce A, Colclough K, Jeffries AR, Proukakis C, Schapira AHV. Toffoli M, et al. Among authors: moreno martinez d. Neurobiol Dis. 2023 Nov;188:106343. doi: 10.1016/j.nbd.2023.106343. Epub 2023 Nov 3. Neurobiol Dis. 2023. PMID: 37926171 Free article.
Connecting Actors With the Introduction of Mobile Technology in Health Care Practice Placements (4D Project): Protocol for a Mixed Methods Study.
Martínez-Gaitero C, Dennerlein SM, Dobrowolska B, Fessl A, Moreno-Martínez D, Herbstreit S, Peffer G, Cabrera E; 4D Project Consortium. Martínez-Gaitero C, et al. Among authors: moreno martinez d. JMIR Res Protoc. 2024 Feb 8;13:e53284. doi: 10.2196/53284. JMIR Res Protoc. 2024. PMID: 38329786 Free PMC article.
Readiness for Change in the Implementation of a 3D Printing Initiative in a Catalan Tertiary Hospital Using the Normalization Process Theory: Survey Study.
López Seguí F, Cos Codina J, Ricou Ríos L, Martínez Segura MI, Miró Mezquita L, Escrich Navarro R, Davins Riu M, Estrada Cuxart O, Anashkin Kachalin G, Moreno-Martínez D. López Seguí F, et al. Among authors: moreno martinez d. JMIR Hum Factors. 2023 Oct 6;10:e47390. doi: 10.2196/47390. JMIR Hum Factors. 2023. PMID: 37801353 Free PMC article.
20 results