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Publications

  • 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: 18

    [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: 21

    [doi:10.1111/cge.13003]

  • 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]

  • Llorca-Cardeñosa A, Català-Mora J, Garcia-Cazorla A, Meavilla-Olivas SM and Castejón-Ponce E.

    Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.

    Archivos De La Sociedad Española De Oftalmología . 91(5): 236-239.

    [doi:10.1016/j.oftal.2016.01.006]

  • Yubero-Siles D, Montero-Sanchez R, O'Callaghan-Gordo M, Pineda M, Meavilla-Olivas SM, Delgadillo V, Sierra-March C, Altimira L, Navas P, Pope S, Oppenheim M, Neergheen V, Ghosh A, Mills P, Clayton P, Footitt E, Cleary M, Hargreaves I, Jones SA, Heales S and Artuch-Iriberri R.

    Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III

    JIMD Reports . 25: 1-7. Number of citations: 10

    [doi:10.1007/8904_2015_421]

  • 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-Rio 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

    ORPHANET JOURNAL OF RARE DISEASES . 10: 164-164. Number of citations: 17

    [doi:10.1186/s13023-015-0376-9]

  • Couce ML, Ramos F, Bueno MA, Díaz J, Meavilla-Olivas SM, Bóveda MD, Fernández-Marmiesse A and Garcia-Cazorla A.

    Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 19(6): 652-659. Number of citations: 27

    [doi:10.1016/j.ejpn.2015.07.009]

  • González Jiménez D, Muñoz Codoceo R, Garriga García M, Molina Arias M, Alvarez Beltran M, García Romero R, Martínez Costa C, Meavilla-Olivas SM, Peña Quintana L, Gallego Gutierrez S, Marugan de Miguelsanz JM, Suarez Cortina L, Castejón Ponce EN, Leis Trabazo R, Martín Cruz F, Díaz Martín JJ and Bousoño García C.

    VITAMIN D AND CHRONIC LUNG COLONIZATION IN PEDIATRIC AND YOUNG ADULTS CYSTIC FIBROSIS PATIENTS

    NUTRICION HOSPITALARIA . 32(4): 1629-1635. Number of citations: 3

    [doi:10.3305/nh.2015.32.4.9503]