Publicaciones
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Bonet N, Mascaro JM Jr, Hurtado-Navarro L, Angosto-Bazarra D, Callejas-Rubio JL, Clemente D, Souto A, Lima O, Palmou-Fontana N, Baselga E, Jiménez-Treviño S, Remesal A, Andreu-Barasoain M, Fernandez-Dominguez L, Riera-Monroig J, Aparicio M, Garcia-Herrero J, Pesqué D, Sanchez-Calvin MT, Lezana-Rosales JM, Correyero-Plaza M, Garcia-Villalba J, Bolaño V, Peiro S, Diaz M, Vlagea A, Lorca D, Fabregat V, Anton MC, Plaza S, Gonzalez-Granado LI, Postigo C, de Morales JMG, de la Fuente EG, Iglesias-Jimenez E, Gomez-Roman J, Vázquez-Triñanes C, Lopez-Robledillo JC, Ortego-Centeno N, Giménez-Arnau AM, Campistol-Plana J, Laayouni H, de Landazuri IO, Yagüe-Ribes J, Gonzalez-Roca E, Mensa-Vilaro A, Fornas O, Ramos E, Pelegrin P, Casals F and Arostegui-Gorospe JI.
Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.
JOURNAL OF CLINICAL IMMUNOLOGY . 45(1): 134-134.
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van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Coskun T, Feillet F, Gizewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F and van Spronsen FJ.
European guidelines on diagnosis and treatment of phenylketonuria: First revision
MOLECULAR GENETICS AND METABOLISM . 145(2): 109125-109125. Nº de citas: 2
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Campistol-Plana J.
Epilepsy or functional neurological disorders. Strategies for diagnosis
MEDICINA-BUENOS AIRES . 84: 69-74.
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Muntau, AC, Longo, N, Ezgu, F, Schwartz, IVD, Lah, M, Bratkovic, D, Margvelashvili, L, Kiykim, E, Zori, R, Campistol-Plana J, Bélanger-Quintana, A, Lund, A, Guilder, L, Chakrapani, A, Mungan, HN, Guimas, A, Guerra, IDC, MacDonald, A, Ingalls, K and Smith, N.
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial
Lancet . 404(10460): 1333-1345. Nº de citas: 12
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Morales-Romero B, Muñoz-Pujol G, Artuch-Iriberri R, Garcia-Cazorla A, O'Callaghan-Gordo M, Sykut-Cegielska J, Campistol-Plana J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J and Tort F.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
MOLECULAR GENETICS AND METABOLISM . 142(3): 108511-108511. Nº de citas: 5
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Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, Carlos Valera Dávila, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A, Bayés A and Alonso-Colmenero I.
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
Frontiers in Cell and Developmental Biology . 12: 1321282-1321282. Nº de citas: 4
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Pijuan-Marquilles J, Vilanova-Adell A, Casas-Alba D, Campistol-Plana J, Hoenicka J and Palau F.
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants
CLINICAL GENETICS . 105(3): 340-342.
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Campistol-Plana J.
Inborn errors of metabolism. Advances in diagnosis and therapeutic
MEDICINA-BUENOS AIRES . 83: 3-8.
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Garcia-Arenas D, Barrau-Martinez B, Gonzalez-Rodriguez A, Llorach R, Campistol-Plana J, Garcia-Cazorla A, Ormazabal-Herrero A and Urpi-Sarda M.
Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods
Nutrients . 15(15): . Nº de citas: 3
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De Giorgi A, Nardecchia F, Manti F, Campistol-Plana J and Leuzzi V.
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review
MOLECULAR GENETICS AND METABOLISM . 139(2): 107588-107588. Nº de citas: 6
