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Paediatrics

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Only original articles, editorials, guidelines.

  • Playán-Escribano J, Labrandero de Lera C, Albert de la Torre L, Rodríguez-Ogando A, Moreno-Galdó A, Guillén Rodríguez I, Sabaté-Rotés A, Moya-Bonora A, Caicedo Cuenca LM, Cerro-Marín MJ.

    Adapting the REVEAL Lite 2 score to the pediatric population through machine learning: insights from the REHIPED registry for pediatric pulmonary hypertension.

    REVISTA ESPANOLA DE CARDIOLOGIA . 79(11): 886-898.

    [doi:10.1016/j.rec.2026.03.006]

  • Miranda-Alcaraz L, Carbonera S, Mora-Gómez M, Gallego-Zazo N, Guillén I, Padilla E, Visani G, Asaro A, Vásquez-Amell V, Cazalla M, Rodríguez-Canó M, Silván C, Arias P, Jiménez-Estrada JA, Valle T, Cruz-Utrilla A, Escribano-Subías P, Parra NO, Del Cerro Marín MJ, Nevado J, Lapunzina P, Sirchia F, Tenorio-Castano J.

    Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

    CLINICAL GENETICS . 110(5): 605-615.

    [doi:10.1111/cge.70228]

  • Mengel E, Stanescu S, Di Fonzo A, Donald A, Collin-Histed T, Djatche L, Rodriguez Santana I, Palli JM, Perichon MG, Pulikottil-Jacob R, Ezgu FS.

    Clinical History and Burden of Gaucher Disease Type 3: A Cross-Sectional Multinational Study.

    JIMD Reports . 67(6): .

    [doi:10.1002/jmd2.70127]

  • Griffiths M, Chinni BK, Lokhorst C, Douwes JM, Sleeper LA, Tingo J, Abman SH, Rosenzweig EB, Schramm JE, Austin ED, Mullen MP, Torrent-Vernetta A, Labrandero C, Benza R, Jesus Del Cerro M, Berger RMF, Manlhiot C, Everett AD.

    The Pediatric Pulmonary Hypertension International Risk Score: A Prediction Model for Outcomes Using Machine Learning.

    CIRCULATION . 154(9): 805-818.

    [doi:10.1161/CIRCULATIONAHA.125.077391]

  • Vázquez Martínez JL, Lozano Rincón L.

    The evolving landscape of pediatric necrotizing pneumonia.

    Minerva Anestesiologica . 92(9): 798-800.

    [doi:10.23736/S0375-9393.26.20445-5]

  • Yap S, Procopio E, Rossi A, Burlina A, Dougherty-de Miguel L, Cañedo E, Furlan F, Stanescu S, Delcroix T, Boutoub Z, Giordano V.

    Real world experience of carglumic acid for methylmalonic and propionic acidurias: the second interim analysis of the multicentre observational PROTECT study.

    Orphanet Journal of Rare Diseases . 21(1): .

    [doi:10.1186/s13023-026-04522-z]

  • 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: 6

    [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. Number of citations: 1

    [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: 8

    [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]