Publicacions
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Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR and Dionisi-Vici C.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
JOURNAL OF INHERITED METABOLIC DISEASE . 40(1): 21-48. Nº de cites: 186
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Yubero-Siles D, Adin A, Montero-Sanchez R, Jou-Munoz C, Jimenez-Mallebrera C, Garcia-Cazorla A, Nascimento-Osorio A, O'Callaghan-Gordo M, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD and Artuch-Iriberri R.
A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities
SCIENTIFIC REPORTS . 6: 15-15. Nº de cites: 12
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Opladen T, Cortés-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla A and International Working Group on Neurotransmitter related disorders (iNTD).
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Molecular genetics and metabolism reports . 9: 61-66. Nº de cites: 42
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Cortés-Saladelafont E, Molero M, Hsjd Working Group, Artuch-Iriberri R and Garcia-Cazorla A.
Pyridoxal Phosphate Supplementation in Neuropediatric Disorders
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 351-358. Nº de cites: 5
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Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, O'Callaghan-Gordo M, Ramos F and Garcia-Cazorla A.
Neuromuscular Manifestations in Mitochondria! Diseases in Children
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 290-305. Nº de cites: 6
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Cortés-Saladelafont E, Tristan-Noguero A, Artuch-Iriberri R, Altafaj X, Bayès A and Garcia-Cazorla A.
Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission
SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 306-320. Nº de cites: 23
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Yubero-Siles D, Montero-Sanchez R, Martín-Mateos MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch-Iriberri R, CoQ deficiency study group, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Pérez-Dueñas B, Ortez-Gonzalez CI, Ramos F, Colomer J, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M and Brea-Calvo G.
Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion . 30: 51-58. Nº de cites: 49
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Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortés-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S and Additional individual contributors of the E-IMD consortium.
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 39(5): 661-672. Nº de cites: 52
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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 cites: 26
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Tristan-Noguero A, Díez H, Jou-Munoz C, Pineda M, Ormazabal-Herrero A, Sánchez A, Artuch-Iriberri R and Garcia-Cazorla A.
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism
METABOLIC BRAIN DISEASE . 31(3): 705-709. Nº de cites: 6