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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: miguel ld. 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
Leigh syndrome associated with TRMU gene mutations.
Sala-Coromina J, Miguel LD, de Las Heras J, Lasa-Aranzasti A, Garcia-Arumi E, Carreño L, Arranz JA, Carnicer C, Unceta-Suárez M, Sanchez-Montañez A, Gort L, Tort F, Del Toro M. Sala-Coromina J, et al. Among authors: miguel ld. Mol Genet Metab Rep. 2020 Dec 15;26:100690. doi: 10.1016/j.ymgmr.2020.100690. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33365252 Free PMC article.