Publicacions
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Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.
Plasma coenzyme Q10 status is impaired in selected genetic conditions
SCIENTIFIC REPORTS . 9: 793-793. Nº de cites: 26
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Campistol-Plana J.
Epilepsies of metabolic origin in the neonate
MEDICINA-BUENOS AIRES . 79: 20-24.
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Campistol-Plana J.
Fenilcetonuria de diagnóstico precoz. Bases fisiopatológicas del daño neuronal y opciones terapéuticas.
MEDICINA-BUENOS AIRES . 79 Suppl 3: 2-5. Nº de cites: 4
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Revilla Orías MD, Xenia Alonso, Campistol-Plana J, Macaya A, Escofet C and Fons-Estupina C.
Epilepsy in children with congenital hemiparesis secondary to perinatal ictus
MEDICINA-BUENOS AIRES . 79(s3): 6-9.
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Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M, and individual contributors of the European Network and Registry for Homocystinu, Baric I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla-Olivas SM, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH and Zeyda M.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 128-139. Nº de cites: 33
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Campistol-Plana J.
Epilepsies of metabolic origin in the neonate.
MEDICINA-BUENOS AIRES . 79 Suppl 3: 20-24.
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Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez-Monseny T, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczynska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R and Morava E.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 5-28. Nº de cites: 82
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Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
Journal of Clinical Medicine . 8(1): . Nº de cites: 12
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van Kuilenburg ABP, Meijer J, Meinsma R, Pérez-Dueñas B, Alders M, Bhuiyan ZA, Artuch-Iriberri R and Hennekam RCM.
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.
JIMD Reports . 45: 65-69. Nº de cites: 2
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Debora Coritza Itzep Perez, Martinez-Monseny T, Bolasell M, Cuadras-Palleja D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Neuropediatrics . 49(6): 408-413. Nº de cites: 4