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139 results

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Page 1
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. Among authors: del toro m. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ. Carta E, et al. Among authors: del toro m. J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14. J Biol Chem. 2012. PMID: 22700964 Free PMC article. Clinical Trial.
Efficacy and safety of colistin plus beta-lactams for bone and joint infection caused by fluoroquinolone-resistant gram-negative bacilli: a prospective multicenter study.
Mancheño-Losa M, Murillo O, Benavent E, Sorlí L, Riera M, Cobo J, Benito N, Morata L, Ribera A, Sobrino B, Fernández-Sampedro M, Múñez E, Bahamonde A, Barbero JM, Del Toro MD, Villa J, Rigo-Bonnin R, Luque S, García-Luque I, Oliver A, Esteban J, Lora-Tamayo J. Mancheño-Losa M, et al. Among authors: del toro md. Infection. 2024 Sep 9. doi: 10.1007/s15010-024-02379-7. Online ahead of print. Infection. 2024. PMID: 39249177
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C. Fabra MA, et al. Among authors: del toro m. J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8. J Inherit Metab Dis. 2024. PMID: 38973597
Early Detection of Cancer and Precancerous Lesions in Persons with HIV through a Comprehensive Cancer Screening Protocol.
Gutiérrez F, López L, Galera C, Tiraboschi JM, Portu J, García-Fraile L, García Del Toro M, Bernal E, Rivero A, García-Abellán J, Flores J, González-Cordón A, Martínez O, Bravo J, Rosado D, Montero M, Sirera G, Torralba M, Galindo MJ, Macías J, Gónzalez I, Boix V, Vivancos MJ, Dios P, Blanco JR, Padilla S, Fernández-González M, Gutiérrez Ortiz de la Tabla A, Martínez E, Masiá M; IMPAC-Neo Study Group. Gutiérrez F, et al. Clin Infect Dis. 2024 Jul 3:ciae359. doi: 10.1093/cid/ciae359. Online ahead of print. Clin Infect Dis. 2024. PMID: 38959300
EPITRANS. Quality assessment of the epilepsy transition process.
Ortiz de Zarate Z, Fonseca E, Abraira L, Santamarina E, Campos-Fernández D, Quintana M, Sánchez J, Goméz-Andrés D, Sala J, Raspall M, Felipe-Rucián A, Del Toro M, Macaya A, Toledo M. Ortiz de Zarate Z, et al. Among authors: del toro m. Eur J Paediatr Neurol. 2024 Jan;48:121-128. doi: 10.1016/j.ejpn.2024.01.004. Epub 2024 Jan 12. Eur J Paediatr Neurol. 2024. PMID: 38241904
Executive summary: Guidelines for the diagnosis and treatment of septic arthritis in adults and children, developed by the GEIO (SEIMC), SEIP and SECOT.
Benito N, Martínez-Pastor JC, Lora-Tamayo J, Ariza J, Baeza J, Belzunegui-Otano J, Cobo J, Del-Toro MD, Fontecha CG, Font-Vizcarra L, Horcajada JP, Morata L, Murillo O, Nolla JM, Núñez-Cuadros E, Pigrau C, Portillo ME, Rodríguez-Pardo D, Sobrino-Díaz B, Saavedra-Lozano J. Benito N, et al. Among authors: del toro md. Enferm Infecc Microbiol Clin (Engl Ed). 2024 Apr;42(4):208-214. doi: 10.1016/j.eimce.2023.07.007. Epub 2023 Oct 31. Enferm Infecc Microbiol Clin (Engl Ed). 2024. PMID: 37919201 Free article.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Among authors: del toro m. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Is an isolated positive sonication fluid culture in revision arthroplasties clinically relevant?
Rondaan C, Maso A, Birlutiu RM, Fernandez Sampedro M, Soriano A, Diaz de Brito V, Gómez Junyent J, Del Toro MD, Hofstaetter JG, Salles MJ, Esteban J, Wouthuyzen-Bakker M; ESCMID Study Group on Implant Associated Infections (ESGIAI). Rondaan C, et al. Among authors: del toro md. Clin Microbiol Infect. 2023 Nov;29(11):1431-1436. doi: 10.1016/j.cmi.2023.07.018. Epub 2023 Jul 28. Clin Microbiol Infect. 2023. PMID: 37516385 Free article.
139 results