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Page 1
Impact of COVID-19 Lockdown in Eating Disorders: A Multicentre Collaborative International Study.
Baenas I, Etxandi M, Munguía L, Granero R, Mestre-Bach G, Sánchez I, Ortega E, Andreu A, Moize VL, Fernández-Real JM, Tinahones FJ, Diéguez C, Frühbeck G, Le Grange D, Tchanturia K, Karwautz A, Zeiler M, Imgart H, Zanko A, Favaro A, Claes L, Shekriladze I, Serrano-Troncoso E, Cecilia-Costa R, Rangil T, Loran-Meler ME, Soriano-Pacheco J, Carceller-Sindreu M, Navarrete R, Lozano M, Linares R, Gudiol C, Carratala J, Plana MT, Graell M, González-Parra D, Gómez-Del Barrio JA, Sepúlveda AR, Sánchez-González J, Machado PPP, Håkansson A, Túry F, Pászthy B, Stein D, Papezová H, Gricova J, Bax B, Borisenkov MF, Popov SV, Gubin DG, Petrov IM, Isakova D, Mustafina SV, Kim YR, Nakazato M, Godart N, van Voren R, Ilnytska T, Chen J, Rowlands K, Voderholzer U, Monteleone AM, Treasure J, Jiménez-Murcia S, Fernández-Aranda F. Baenas I, et al. Among authors: navarrete r. Nutrients. 2021 Dec 27;14(1):100. doi: 10.3390/nu14010100. Nutrients. 2021. PMID: 35010974 Free PMC article.
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Brasil S, Leal F, Vega A, Navarrete R, Ecay MJ, Desviat LR, Riera C, Padilla N, de la Cruz X, Couce ML, Martin-Hernández E, Morais A, Pedrón C, Peña-Quintana L, Rigoldi M, Specola N, de Almeida IT, Vives I, Yahyaoui R, Rodríguez-Pombo P, Ugarte M, Pérez-Cerda C, Merinero B, Pérez B. Brasil S, et al. Among authors: navarrete r. Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y. Orphanet J Rare Dis. 2018. PMID: 30041674 Free PMC article.
Mutational spectrum of maple syrup urine disease in Spain.
Rodríguez-Pombo P, Navarrete R, Merinero B, Gómez-Puertas P, Ugarte M. Rodríguez-Pombo P, et al. Among authors: navarrete r. Hum Mutat. 2006 Jul;27(7):715. doi: 10.1002/humu.9428. Hum Mutat. 2006. PMID: 16786533
New splicing mutations in propionic acidemia.
Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B. Desviat LR, et al. Among authors: navarrete r. J Hum Genet. 2006;51(11):992-997. doi: 10.1007/s10038-006-0068-3. Epub 2006 Oct 19. J Hum Genet. 2006. PMID: 17051315
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P. Fernández-Guerra P, et al. Among authors: navarrete r. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S191-8. doi: 10.1007/s10545-010-9077-7. Epub 2010 Apr 30. J Inherit Metab Dis. 2010. PMID: 20431954
Defining the pathogenicity of creatine deficiency syndrome.
Alcaide P, Merinero B, Ruiz-Sala P, Richard E, Navarrete R, Arias A, Ribes A, Artuch R, Campistol J, Ugarte M, Rodríguez-Pombo P. Alcaide P, et al. Among authors: navarrete r. Hum Mutat. 2011 Mar;32(3):282-91. doi: 10.1002/humu.21421. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21140503
146 results