Investigación Clínica

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. Pathogenic variants of DNAJC12
and evaluation of the encoded cochaperone as a genetic modifier of
hyperphenylalaninemia. Hum Mutat. 2020 Jul;41(7):1329-1338. doi:
10.1002/humu.24026. Epub 2020 Apr 30. PMID: 32333439

Yahyaoui R, Pérez-Frías J. Amino Acid Transport Defects in Human Inherited Metabolic Disorders. Int J Mol Sci. 2019 Dec 23;21(1):119. doi:
10.3390/ijms21010119. PMID: 31878022.

Andrade F, Vitoria I, Martín Hernández E, Pintos-Morell G, Correcher P, Puig- Piña R, Quijada-Fraile P, Peña-Quintana L, Marquez AM, Villate O, García Silva MT, de Las Heras J, Ceberio L, Rodrigues E, Almeida Campos T, Yahyaoui R, Blasco J, Vives-Piñera I, Gil D, Del Toro M, Ruiz-Pons M, Cañedo E, Barba Romero MA, García-Jiménez MC, Aldámiz-Echevarría L.
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC- MS/MS as treatment compliance biomarkers in Urea Cycle disorders. J Pharm Biomed Anal. 2019 Nov 30;176:112798. doi: 10.1016/j.jpba.2019.112798. Epub 2019 Aug 1. PMID: 31394303.

Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ,
Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Newborn screening for homocystinurias: Recent recommendations versus current practice. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. PMID: 30740731.

Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F,
Aldámiz-Echevarría L, Muñoz-Hernández MC, Vega AI, Pérez-Cerdá C, García-Martín ML, Pérez B. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening. J Inherit Metab Dis. 2019 May;42(3):407-413. doi: 10.1002/jimd.12063. Epub 2019 Feb 21. PMID: 30671984.

Navarrete R, Leal F, Vega AI, Morais-López A, Garcia-Silva MT, Martín-
Hernández E, Quijada-Fraile P, Bergua A, Vives I, García-Jiménez I, Yahyaoui R, Pedrón-Giner C, Belanger-Quintana A, Stanescu S, Cañedo E, García- Campos O, Bueno-Delgado M, Delgado-Pecellín C, Vitoria I, Rausell MD, Balmaseda E, Couce ML, Desviat LR, Merinero B, Rodríguez-Pombo P, Ugarte M, Pérez-Cerdá C, Pérez B. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. Eur J Hum Genet. 2019 Apr;27(4):556-562. doi: 10.1038/s41431-018-
0330-0. Epub 2019 Jan 9. PMID: 30626930.

Rodriguez-Garcia E, Ruiz-Nava J, Santamaria-Fernandez S, Fernandez-Garcia JC, Vargas-Candela A, Yahyaoui R, Tinahones FJ, Bernal-Lopez MR, Gomez- Huelgas R. Implications of the Mediterranean diet and physical exercise on the lipid profile of metabolically healthy obese women as measured by nuclear magnetic resonance spectroscopy . Chem Phys Lipids. 2018 Jul;213:68-75. doi: 10.1016/j.chemphyslip.2018.03.007. Epub 2018 Mar 23. PMID: 29580835.

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.
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants. Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y. PMID: 30041674.

Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C,
Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases. Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18. PMID: 30334577.

Rogne T, Tielemans MJ, Chong MF, Yajnik CS, Krishnaveni GV, Poston L,
Jaddoe VW, Steegers EA, Joshi S, Chong YS, Godfrey KM, Yap F, Yahyaoui R, Thomas T, Hay G, Hogeveen M, Demir A, Saravanan P, Skovlund E,
Martinussen MP, Jacobsen GW, Franco OH, Bracken MB, Risnes KR.
Associations of Maternal Vitamin B12 Concentration in Pregnancy With the Risks of Preterm Birth and Low Birth Weight: A Systematic Review and Meta- Analysis of Individual Participant Data. Am J Epidemiol. 2017 Feb 1;185(3):212- 223. doi: 10.1093/aje/kww212. PMID: 28108470.