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  • Peña-Rodríguez M, Bara-Ledesma N, Fabregate M, Morales Conejo M, Domínguez-Rodríguez F, Merino-Ortiz B, Stanescu S, Ruiz-Sala P, González García A, Belanger-Quintana A, López-Rodríguez M.

    Immuno-Inflammatory Profiling and Complement Activation in Fabry Disease: A Cross-Sectional Study.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 27(15): .

    [doi:10.3390/ijms27156850]

  • Pinto A, Ahring K, Almeida MF, Ashmore C, Bailey S, Bélanger-Quintana A, Burlina A, Cole D, Dale C, Daly A, van Dam E, Dawson C, Evans S, Firman S, Ford S, Green D, Geberhiwot T, Hoekstra Y, Howe S, Ilgaz F, Loro C, McStravick N, Ramachandran R, Rawlins K, Robertson L, Rocha JC, Rodenburg I, Schulenburg-Brand D, van Spronsen FJ, Wilcox G, Woodall A, MacDonald A.

    How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.

    Nutrients . 18(13): .

    [doi:10.3390/nu18132136]

  • Yahyaoui R, Quijada-Fraile P, Blasco-Alonso J, Vives I, Gil Ortega D, Couce ML, Sánchez-Pintos P, García Jiménez MC, Meavilla Olivas S, García Volpe C, de Los Santos Mercedes M, García-Cazorla Á, Felipe-Rucián A, Dougherty-de Miguel L, Morais López A, Bergua Martínez A, Andrade Guerrero JD, Stanescu S, Belanger A, Gil-Campos M, Comino Monroy MJ, Bellusci M, Pérez-Mohand P, Barrio-Carreras D, Pérez B, Martín-Hernández E.

    Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

    International Journal of Neonatal Screening . 12(2): .

    [doi:10.3390/ijns12020044]

  • Miranda-Alcaraz L, Mora-Gómez M, Gallego-Zazo N, Cruz-Utrilla A, Del Cerro Marín MJ, Ochoa Parra N, Martín de Miguel I, Gutiérrez Ortiz E, Jiménez-Estrada JA, Parra A, Cazalla M, Ramos S, Rodríguez-Canó M, Silván C, Vásquez-Amell V, Arias P, Nevado J, de Jesús Pérez V, Lapunzina P, Escribano-Subías P, Tenorio-Castano J.

    Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 34(6): 831-839.

    [doi:10.1038/s41431-026-02081-2]

  • Martínez Olmos MÁ, Alcalde-Martín C, Bélanger-Quintana A, Burgos Peláez R, de Las Heras J, Del Toro M, Forga Visa M, Moráis-López A, Morales-Conejo M, Venegas-Moreno E, Vitoria Miñana I.

    Executive summary of the consensus document on management of the transition of patients with inborn errors of intermediary metabolism.

    Revista clinica espanola . 226(6): 502548-502548.

    [doi:10.1016/j.rceng.2026.502548]

  • Gizewska M, Inwood A, Tycová R, Vijay S, Fjellbirkeland O, van Spronsen F, Venegas-Moreno EM, Guilder L, Burlina A, Peters H, Potter M, Grošelj U, Chakrapani A, Bélanger-Quintana A, Maillot F, Rutsch F, Arnoux JB, Tchan M, Ingalls K, Zhao Z, Hughes C, Smith N, Muntau AC.

    Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial.

    METABOLISM-CLINICAL AND EXPERIMENTAL . 178: 156513-156513. Number of citations: 4

    [doi:10.1016/j.metabol.2026.156513]

  • Montero-Yéboles R, Ferrin-Diánez A, Roselló P, López-Prats JL, Ruiz-Sáez B, Vázquez JL.

    Ultrasonographic optic nerve sheath diameter as a non-invasive marker of intracranial hypertension in pediatric patients: a pilot study.

    Frontiers in Pediatrics . 14: 1785962-1785962.

    [doi:10.3389/fped.2026.1785962]

  • Rodriguez Ogando A, Sabaté-Rotés A, Moya Bonora A, Albert de la Torre L, Espín López JM, Labrandero de Lera C, Del Cerro Marin MJ.

    Macitentan in Children with Pulmonary Arterial Hypertension: A Multicenter Experience.

    PEDIATRIC CARDIOLOGY . 47(4): 1572-1580. Number of citations: 2

    [doi:10.1007/s00246-025-03937-y]

  • van Spronsen F, Peters H, Margvelashvili L, Agladze D, Schwartz IVD, Gizewska M, Hamazaki T, Guilder L, MacDonald A, Vijay S, Inwood A, Minami M, Fjellbirkeland O, Lund A, Lah M, Thomas JA, Longo N, Kiykim E, Ishige M, Burlina A, Bélanger-Quintana A, Rutsch F, Opladen T, Mungan H, Ezgü F, Bratkovic D, Chakrapani A, Ito T, Guimas A, Zori R, Tchan M, Sacharow S, Oliveira A, Janeiro P, Guerra IC, Plana JC, Yildiz Y, Canda E, Khan A, Vockley J, Breilyn MS, Manti F, Larkin A, Hughes C, Liu E, Gao L, Ingalls K, Smith N, Muntau AC.

    Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

    GENETICS IN MEDICINE . 28(4): 101683-101683. Number of citations: 5

    [doi:10.1016/j.gim.2026.101683]

  • Heras JL, Suarez MU, Mercado-Gómez M, Gracianteparaluceta LU, Buqué X, Alonso C, Serrano-Macia M, Alcalde C, Cano A, González-Recio I, Goikoetxea-Usandizaga N, Mora E, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Chicano DM, Morales M, Pedrón-Giner C, Jáuregui EP, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Serrano-Gonzalo I, Miñana IV, Larena JA, Couce ML, Martínez-Chantar ML, Aspichueta P, Delgado TC.

    Lipidomics uncovers metabolic manifestations related to liver steatosis and low-grade systemic inflammation in diet-treated hereditary fructose intolerance patients.

    CLINICAL NUTRITION . 59: 106608-106608.

    [doi:10.1016/j.clnu.2026.106608]

  • Izquierdo-García E, Mora E, García-Arenas D, Martínez Chicano D, López-García MS, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Diego E, Bellusci M, Chumillas-Calzada S, Correcher P, Couce ML, Cano A, Gómez I, Hernández T, Morales M, Pedrón-Giner C, Petrina Jáuregui E, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Unceta Suarez M, Arza A, Vitoria Miñana I, Delgado TC, de Las Heras J.

    Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.

    Nutrients . 18(5): .

    [doi:10.3390/nu18050771]

  • Amir R, Ladouceur M, Danford D, Aboulhosn J, Antonova P, Baker D, Bouchardy J, Budts W, Burchill LJ, Celermajer DS, Cotts T, Cramer J, Dehghani P, Fusco F, Dellborg M, DeZorzi C, Gallego P, Gatzoulis M, Ginde S, Grewal J, Gupta T, Han F, Jameson SM, Del Cerro Marin MJ, John AS, Kauling RM, Kay WA, Kay J, Khairy P, Krieger EV, Kuo M, Labombarda F, Lubert AM, Magalski A, Nicolarsen J, O'Donnell C, Opotowsky AR, Pavsic N, Prokselj K, Pylypchuk S, Rodriguez F 3rd, Rodriguez-Monserrate CP, Roos-Hesselink J, Rutz T, Fuente MA, Sarubbi B, Shah S, Van De Bruaene A, van Dissel A, Garrido-Lestache ME, Muhll IV, Wilson WM, Wong T, Wong J, Yeung E, Kutty S, Broberg CS, Cedars A.

    Tricuspid valve surgery in transposition of the great arteries with a systemic right ventricle.

    International Journal of Cardiology . 445: 134055-134055. Number of citations: 2

    [doi:10.1016/j.ijcard.2025.134055]

  • Urmeneta Ulloa J, Martínez de Vega V, Molina Borao I, Álvarez Vázquez A, López Alcolea J, Recio Rodríguez M, Cabrera JÁ.

    4D-Flow Cardiac Magnetic Resonance Imaging: An 8-Year Clinical Practice Review.

    Reviews in Cardiovascular Medicine . 27(1): 46999-46999. Number of citations: 1

    [doi:10.31083/RCM46999]

  • Muntau AC, Gallagher S, Lah M, Belanger-Quintana A, Longo N.

    Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial.

    Journal of Comparative Effectiveness Research . 15(1): . Number of citations: 3

    [doi:10.57264/cer-2025-0116]

  • Domínguez-Ruiz M, Chico JL, López-Marín L, Stanescu S, Crujeiras P, Rodrigues D, Heras-Alonso ML, Torremocha R, Meijón-Ortigueira MDM, Muñoz-Díez P, Lanza VF, Colón C, Villarrubia J, Belanger A, Castillo FJD.

    Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease

    Biomedicines . 13(12): .

    [doi:10.3390/biomedicines13123114]

  • Ocaña-Alcober C, Oulego-Erroz I, Palanca-Arias D, Alonso-Ojembarrena A, Menéndez-Suso JJ, Vázquez-Martínez JL.

    Impact of Body Size on Stroke Volume Response to Passive Leg Raising in Spontaneously Breathing Children

    Pediatric Critical Care Medicine . 26(12): 1457-1466. Number of citations: 1

    [doi:10.1097/PCC.0000000000003828]

  • Stanescu, Sinziana, Villate, Olatz, Andrade, Fernando, Gonzalez-Lamuno, Domingo, Belanger-Quintana, Amaya, Arrieta, Francisco, Couce, Maria-Luz, Muriel, Alfonso, Aldamiz-Echevarria, Luis.

    Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood

    Molecular Genetics and Metabolism Reports . 45: 101251-101251. Number of citations: 2

    [doi:10.1016/j.ymgmr.2025.101251]

  • Téllez L, Donate J, Guerrero A, Beraza IA, San Martín D, Alvarado E, Echevarría V, Puente Á, Zamora J, Prado SD, Tenes A, Balagué G, Vidal B, Geli C, Rodríguez-Gandía MÁ, Baiges A, Brujats A, López-Herrera Rodríguez D, Fernández-Gordón Sánchez S, Fortea JI, Jesús Del Cerro M, Villanueva C, García-Pagán JC, Giráldez Á, Albillos A.

    Early portopulmonary hypertension predicts mortality in patients with cirrhosis: Insights from the PORTO-DETECT cohort.

    JOURNAL OF HEPATOLOGY . 84(2): 284-292. Number of citations: 11

    [doi:10.1016/j.jhep.2025.09.011]