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Page 1
Editorial comment from Dr. Alonso, Dr. Perez-Bertolez, and Dr. Castro to neonatal adrenal hemorrhage presenting as an acute scrotum: A case report on the rare presentation of right adrenal hemorrhage and contralateral left scrotal hematoma.
Alonso V, Perez-Bertolez S, Castro M. Alonso V, et al. Among authors: castro m. IJU Case Rep. 2022 Aug 2;5(6):430. doi: 10.1002/iju5.12516. eCollection 2022 Nov. IJU Case Rep. 2022. PMID: 36341178 Free PMC article. No abstract available.
CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease.
Picó S, Parras A, Santos-Galindo M, Pose-Utrilla J, Castro M, Fraga E, Hernández IH, Elorza A, Anta H, Wang N, Martí-Sánchez L, Belloc E, Garcia-Esparcia P, Garrido JJ, Ferrer I, Macías-García D, Mir P, Artuch R, Pérez B, Hernández F, Navarro P, López-Sendón JL, Iglesias T, Yang XW, Méndez R, Lucas JJ. Picó S, et al. Among authors: castro m. Sci Transl Med. 2021 Sep 29;13(613):eabe7104. doi: 10.1126/scitranslmed.abe7104. Epub 2021 Sep 29. Sci Transl Med. 2021. PMID: 34586830 Free article.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D. Justel M, et al. Among authors: castro mdc. J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197784 Free PMC article.
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Martínez-Pizarro A, Picó S, López-Márquez A, Rodriguez-López C, Montalvo E, Alvarez M, Castro M, Ramón-Maiques S, Pérez B, Lucas JJ, Richard E, Desviat LR. Martínez-Pizarro A, et al. Among authors: castro m. Hum Mol Genet. 2024 Mar 23:ddae051. doi: 10.1093/hmg/ddae051. Online ahead of print. Hum Mol Genet. 2024. PMID: 38520741
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B. Gallego D, et al. Among authors: castro m. Hum Mutat. 2020 Jul;41(7):1329-1338. doi: 10.1002/humu.24026. Epub 2020 Apr 30. Hum Mutat. 2020. PMID: 32333439 Free article.
Case report: Long-term follow-up of a large full-thickness skin defect treated with a photosynthetic scaffold for dermal regeneration.
Obaíd ML, Carvajal F, Camacho JP, Corrales-Orovio R, Martorell X, Varas J, Calderón W, Guzmán CD, Brenet M, Castro M, Orlandi C, San Martín S, Eblen-Zajjur A, Egaña JT. Obaíd ML, et al. Among authors: castro m. Front Bioeng Biotechnol. 2022 Dec 1;10:1004155. doi: 10.3389/fbioe.2022.1004155. eCollection 2022. Front Bioeng Biotechnol. 2022. PMID: 36532582 Free PMC article.
Towards a classification framework for patient safety incidents and adverse events for a mental health community-based model of service provision.
Frigola-Capell E, Morgan R, Nogué A, Thelen I, Font J, Gonzalvo B, Oliveras P, Bacardí E, Malla MD, Gimeno A, Pla A, Serrano D, Palomer E, Trafach G, Sagredo JLI, De Castro M, Gibernau M, Serrallonga R, Roger M, Cid J. Frigola-Capell E, et al. Among authors: de castro m. Rev Psiquiatr Salud Ment (Engl Ed). 2022 Jul-Sep;15(3):211-212. doi: 10.1016/j.rpsmen.2022.09.010. Rev Psiquiatr Salud Ment (Engl Ed). 2022. PMID: 36272740 No abstract available.
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