Publicaciones
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Pérez-López J, Ceberio-Hualde L, García Morillo JS, Grau-Junyent JM, Hermida Ameijeiras Á, López-Rodríguez M, Morales-Conejo M, Nava Mateos JJ, Aldámiz Echevarri Azuara LJ, Campistol-Plana J, Couce ML, García-Silva MT, González Gutiérrez-Solana L and Del Toro M.
Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso.
MEDICINA CLINICA . 147(11): 506-506. Nº de citas: 6
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Fons-Estupina C and Campistol-Plana J.
Creatine Defects and Central Nervous System.
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 285-289. Nº de citas: 17
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Campistol-Plana J.
Epilepsy in Inborn Errors of Metabolism With Therapeutic Options
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 321-331. Nº de citas: 15
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González MJ, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.
Impaired Neurotransmission in Early-treated Phenylketonuria Patients
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 332-340. Nº de citas: 19
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Campistol-Plana J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado-Rio M, Garcia-Cazorla A, Lozano R and Artuch-Iriberri R.
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 58(8): 842-847. Nº de citas: 24
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Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism
PLoS One . 11(5): . Nº de citas: 40
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Montero-Sanchez R, Yubero-Siles D, Villarroya-Terrade J, Henares-Bonilla D, Jou-Munoz C, Rodríguez-García MA, Ramos F, Nascimento-Osorio A, Ortez-Gonzalez CI, Campistol-Plana J, Pérez-Dueñas B, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Colomer J, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya-Gombau F, Artuch-Iriberri R and Jimenez-Mallebrera C.
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction
PLoS One . 11(2): . Nº de citas: 119
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García-Villoria J, Navarro-Sastre A, Fons-Estupina C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MT, González I, Hernández-Gonzalez A, Fernández C, Campistol-Plana J, Delpiccolo C, Cortés N, Messeguer A, Briones P and Ribes A.
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis (vol 42, pg 27, 2009)
CLINICAL BIOCHEMISTRY . 49(1-2): 197-197.
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Jaffer F, Avbersek A, Vavassori R, Fons-Estupina C, Campistol-Plana J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP and Sisodiya SM.
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
BRAIN . 138: 2859-2874. Nº de citas: 28
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Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons-Estupina C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramírez-Camacho A, Ulate-Campos A, Campistol-Plana J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A, Italian IBAHC Consortium, French AHC Consortium and International AHC Consortium.
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
ORPHANET JOURNAL OF RARE DISEASES . 10: 123-123. Nº de citas: 110