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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: 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
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. 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.
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.
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.
BDNF levels and nigrostriatal degeneration in "drug naïve" Parkinson's disease patients. An "in vivo" study using I-123-FP-CIT SPECT.
Hernández-Vara J, Sáez-Francàs N, Lorenzo-Bosquet C, Corominas-Roso M, Cuberas-Borròs G, Lucas-Del Pozo S, Carter S, Armengol-Bellapart M, Castell-Conesa J. Hernández-Vara J, et al. Parkinsonism Relat Disord. 2020 Sep;78:31-35. doi: 10.1016/j.parkreldis.2020.06.037. Epub 2020 Jul 4. Parkinsonism Relat Disord. 2020. PMID: 32682292
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. 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.
Predictors of clinically significant quality of life impairment in Parkinson's disease.
Santos García D, de Deus Fonticoba T, Cores C, Muñoz G, Paz González JM, Martínez Miró C, Suárez E, Jesús S, Aguilar M, Pastor P, Planellas L, Cosgaya M, García Caldentey J, Caballol N, Legarda I, Hernández Vara J, Cabo I, López Manzanares L, González Aramburu I, Ávila Rivera MA, Catalán MJ, Nogueira V, Puente V, Ruíz de Arcos M, Borrué C, Solano Vila B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Carrillo Padilla F, Martínez Castrillo JC, Sánchez Alonso P, Alonso Losada MG, López Ariztegui N, Gastón I, Clavero P, Kulisevsky J, Blázquez Estrada M, Seijo M, Rúiz Martínez J, Valero C, Kurtis M, de Fábregues O, González Ardura J, Ordás C, López Díaz LM, McAfee D, Martinez-Martin P, Mir P; COPPADIS Study Group. Santos García D, et al. NPJ Parkinsons Dis. 2021 Dec 16;7(1):118. doi: 10.1038/s41531-021-00256-w. NPJ Parkinsons Dis. 2021. PMID: 34916528 Free PMC article.
17 results