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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: lucas del pozo s. 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.
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: lucas del pozo s. Neurobiol Dis. 2023 Nov;188:106343. doi: 10.1016/j.nbd.2023.106343. Epub 2023 Nov 3. Neurobiol Dis. 2023. PMID: 37926171 Free article.
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. Among authors: lucas del pozo s. J Clin Med. 2021 Apr 13;10(8):1664. doi: 10.3390/jcm10081664. J Clin Med. 2021. PMID: 33924567 Free PMC article. Review.
Corticobasal syndrome: A case of discordance between the clinical findings and the imaging biomarkers.
Carrillo-Villamizar E, Cardozo-Saavedra A, Lorenzo-Bosquet C, Lucas Del Pozo S, Martínez-Sáez E, Hernández-Vara J. Carrillo-Villamizar E, et al. Among authors: lucas del pozo s. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2022 Jan-Feb;41(1):52-54. doi: 10.1016/j.remnie.2021.05.002. Epub 2021 Nov 16. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2022. PMID: 34794916 No abstract available.
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. 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.
Vitamin E deficiency ataxia in a family with possible cardiac involvement.
Lucas-Del-Pozo S, Moreno-Martínez D, Tejero-Ambrosio M, Hernández-Vara J. Lucas-Del-Pozo S, et al. Neurologia (Engl Ed). 2021 Jan-Feb;36(1):92-94. doi: 10.1016/j.nrl.2020.02.001. Epub 2020 Mar 14. Neurologia (Engl Ed). 2021. PMID: 32183996 Free article. English, Spanish. No abstract available.
Corticobasal syndrome: A case of discordance between the clinical findings and the imaging biomarkers.
Carrillo-Villamizar E, Cardozo-Saavedra A, Lorenzo-Bosquet C, Lucas Del Pozo S, Martínez-Sáez E, Hernández-Vara J. Carrillo-Villamizar E, et al. Among authors: lucas del pozo s. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2021 Apr 16:S2253-654X(21)00057-3. doi: 10.1016/j.remn.2021.02.015. Online ahead of print. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2021. PMID: 33875401 English, Spanish. No abstract available.
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: lucas del pozo s. 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
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