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  • Marín Soria JL, López Galera RM, Argudo Ramírez A, González de Aledo JM, Pajares García S, Navarro Sastre A, Hernandez Pérez JM, Ribes Rubio A, Gort Mas L, García Villoria J, Gartner Tizano S, Rovira Amigo S, Asensio de la Cruz O, García González M, Cols M, Costa-Colomer J, Bádenas Orquin C, Yeste Fernández D, Campos Martorell A, Clemente León M, Mogas Viñals E, Ferrer Costa R, Giralt Arnaiz M, Campistol-Plana J, Garcia-Cazorla A, Beneitez Pastor D, Ortuño Cabrero A, Blanco Álvarez A, Tazón Vega B, Roué G, Velasco Puyo P, Murciano Carrillo T, Murillo Sanjuan L, Díaz de Heredia Rubio C, Mañú Pereira MDM, Vives Corrons JL, Arranz Amo JA, Carnicer Cáceres C, Del Toro Riera M, Ormazábal Herrero A, Artuch-Iriberri R, García-Volpe C, de los Santos MM, Sierra-March C, Ruiz-Hernández CJ, Meavilla-Olivas SM, Martín Nalda A, Rivière JG, Parra Martínez A, Soler Palacín P, Martínez Gallo M, Colobran R, Casals Senent T, Armelles Sebastia M, Vidal Benede MJ, Jané Checa M, Fernández Bordón RM, Asso Ministral L, Prats Viedma B and Cabezas Peña C.

    50 años del Programa de Cribado Neonatal en Cataluña.

    Revista espanola de salud publica . 94: 1-15.

  • Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.

    Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.

    SCIENTIFIC REPORTS . 9(1): 9128-9128. Number of citations: 3

    [doi:10.1038/s41598-019-45674-2]

  • Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C, EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla-Olivas SM, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J and Weisfeld-Adams J.

    Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(2): 333-352. Number of citations: 16

    [doi:10.1002/jimd.12041]

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Joan Maynou Fernández, Fernandez G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q(10) status is impaired in selected genetic conditions.

    SCIENTIFIC REPORTS . 9(1): 793-793. Number of citations: 8

    [doi:10.1038/s41598-018-37542-2]

  • 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, and individual contributors of the European Network and Registry for Homocystinu, Baric 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-Olivas SM, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH and Zeyda M.

    Newborn screening for homocystinurias: Recent recommendations versus current practice

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 128-139. Number of citations: 23

    [doi:10.1002/jimd.12034]

  • Quintero J, Molera C, Juamperez J, Redecillas S, Meavilla-Olivas SM, Nuñez R, García C, Del Toro M, Garcia Á, Ortega J, Segarra Ó, Martín-de-Carpi J, Bilbao I and Charco R.

    The Role of Liver Transplantation in Propionic Acidemia Reply

    LIVER TRANSPLANTATION . 25(1): 178-179.

    [doi:10.1002/lt.25389]

  • Quintero J, Molera C, Juamperez J, Redecillas S, Meavilla-Olivas SM, Nuñez R, García C, Del Toro M, Garcia Á, Ortega J, Segarra Ó, Martín-de-Carpi J, Bilbao I and Charco R.

    The Role of Liver Transplantation in Propionic Acidemia

    LIVER TRANSPLANTATION . 24(12): 1736-1745. Number of citations: 12

    [doi:10.1002/lt.25344]

  • Peña-Quintana L, Scherer G, Curbelo-Estévez ML, Jiménez-Acosta F, Hartmann B, Roche F, Meavilla-Olivas SM, Pérez-Cerdá C, García Segarra N, Giguère Y, Huppke P, Mitchell GA, Mönch E, Trump D, Vianey-Saban C, Trimble ER, Vitoria-Miñana I, Reyes-Suárez D, Ramírez-Lorenzo T and Tugores A.

    Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

    CLINICAL GENETICS . 92(3): 306-317. Number of citations: 12

    [doi:10.1111/cge.13003]

  • Cassis L, Cortés-Saladelafont E, Molero M, Yubero-Siles D, González MJ, Ormazabal-Herrero A, Fons-Estupina C, Jou-Munoz C, Sierra-March C, Castejón Ponce E, Ramos F, Armstrong-Moron J, O'Callaghan-Gordo M, Casado M, Montero-Sanchez R, Meavilla-Olivas SM, Artuch-Iriberri R, Baric I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanovic-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M and Garcia-Cazorla A.

    Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders (vol 10, 164, 2015)

    ORPHANET JOURNAL OF RARE DISEASES . 11: 147-147.

    [doi:10.1186/s13023-016-0431-1]

  • Ruiz-Hernández CJ, Castejón Ponce E, Bossacoma-Busquets F, Hernández DS, Meavilla-Olivas SM, Santacruz EL, Perez-Requena N, De Los Santos Pelegrini M and Villaronga M.

    Hypersensitivity reaction to components of parenteral nutrition in pediatrics

    Nutrition . 32(11-12): 1303-1305. Number of citations: 9

    [doi:10.1016/j.nut.2016.04.010]