Search publications

Publications

  • Rodriguez H, Arias AY, Elisabet Poyatos Cantón, de los Santos MM, Mínguez B, Meavilla-Olivas SM, García-Volpe C, Loverdos I, Molera C, Casado-Rio M, Ormazabal-Herrero A, Perera A and Artuch-Iriberri R.

    Proof of concept for an age- and inflammation-adjusted model for the establishment of pediatric serum copper reference intervals

    CLINICAL NUTRITION . 58: 106586-106586.

    [doi:10.1016/j.clnu.2026.106586]

  • Barrau-Martinez B, Gonzalez-Rodriguez A, Garcia-Arenas D, Campistol-Plana J, Meavilla-Olivas SM, Roca-Vives R, Jáuregui O, Ormazabal-Herrero A, Llorach R and Urpi-Sarda M.

    Nutritional and Metabolic Signatures in Pediatric Phenylketonuria and Hyperphenylalaninemia: Insights from Untargeted Urinary Metabolomics.

    The Journal of nutritional biochemistry . : 110307-110307.

    [doi:10.1016/j.jnutbio.2026.110307]

  • Martín-Hernández E, Bellusci M, Pérez-Mohand P, Correcher Medina P, Blasco-Alonso J, Morais-López A, de Las Heras J, Meavilla-Olivas SM, Dougherty-de Miguel L, Couce ML, Villarroya EC, García Jiménez MC, Moreno-Lozano PJ, Vives I, Gil-Campos M, Stanescu S, Ceberio-Hualde L, Camprodón M, Cortés-Saladelafont E, López-Urdiales R, Murray Hurtado M, Márquez Armenteros AM, Sierra Córcoles C, Peña-Quintana L, Ruiz-Pons M, Alcalde C, Castellanos-Pinedo F, Dios E, Barrio-Carreras D, Martín-Cazaña M, García-Peris M, Andrade JD, García-Volpe C, de los Santos MM, Garcia-Cazorla A, Del Toro M, Felipe-Rucián A, Comino Monroy MJ, Sánchez-Pintos P, Matas A, Gil Ortega D, Martín-Rivada Á, Bergua A, Belanger-Quintana A, Vitoria I, Yahyaoui R, Pérez B, Morales-Conejo M and Quijada-Fraile P.

    Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry

    Nutrients . 17(7): .

    [doi:10.3390/nu17071173]

  • de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla-Olivas SM, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R and Quintero J.

    Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease

    Nutrients . 16(24): . Number of citations: 9

    [doi:10.3390/nu16244309]

  • Mínguez B, de los Santos MM, García-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva-Mussara C, Arias A, Rodriguez H, Yubero-Siles D, Tondo M, Santos-Ocaña C, Meavilla-Olivas SM and Artuch-Iriberri R.

    Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

    Antioxidants . 13(8): . Number of citations: 1

    [doi:10.3390/antiox13080966]

  • Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.

    Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function

    ANNALS OF NEUROLOGY . 94(5): 987-1004. Number of citations: 31

    [doi:10.1002/ana.26758]

  • Diana Garcia Tirado, Molera C, Álvarez Beltrán M, Mercadal-Hally M, Vaquero Raya EC, Meavilla-Olivas SM, Johanna Martínez Osorio, Barber-Martínez de la Torre I, Cárdenas Vásquez A, Segarra Canton O and Martín-de-Carpi J.

    A Better Understanding of Pediatric Autoimmune Pancreatitis: Over 13 Years of Experience

    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION . 76(5): 640-645. Number of citations: 4

    [doi:10.1097/MPG.0000000000003732]

  • Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla-Olivas SM, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de los Santos MM, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M and Bellusci M.

    Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine . 11(17): 5045. Number of citations: 10

    [doi:10.3390/jcm11175045]

  • Sánchez-Pintos P, Meavilla-Olivas SM, López-Ramos MG, Garcia-Cazorla A and Couce ML.

    Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease

    Frontiers in Pediatrics . 10: 969741-969741. Number of citations: 2

    [doi:10.3389/fped.2022.969741]

  • Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Ramadža DP, Baumgartner MR, Cano A, Jiménez MCG, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla-Olivas SM, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V and Kölker S.

    Postauthorization safety study of betaine anhydrous

    JOURNAL OF INHERITED METABOLIC DISEASE . 45(4): 719-733. Number of citations: 8

    [doi:10.1002/jimd.12499]