Publicacions
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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 cites: 40
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Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Pérez-Dueñas B, Paciorkowski AR and Kurian MA.
Delineation of the movement disorders associated with FOXG1 mutations
Neurology . 86(19): 1794-1800. Nº de cites: 59
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Ortigoza-Escobar JD, De Oyarzabal-Sanz AL, Montero-Sanchez R, Artuch-Iriberri R, Jou-Munoz C, Jimenez-Mallebrera C, Gort L, Briones P, Muchart-Lopez J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P and Pérez-Dueñas B.
Ndufs4 related Leigh syndrome: A case report and review of the literature
Mitochondrion . 28: 73-78. Nº de cites: 48
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Heringer, J., Valayannopoulos, V., Lund, A.M., Wijburg, F.A., Freisinger, P., Baric, I., Baumgartner, M.R., Burgard, P., Burlina, A.B., Chapman, K.A., Cortés-Saladelafont E, Karall, D., Mühlhausen, C., Riches, V., Schiff, M., Sykut-Cegielska, J., Walter, J.H., Zeman, J., Chabrol, B. and Kölker, S..
Impact of age at onset and newborn screening on outcome in organic acidurias
JOURNAL OF INHERITED METABOLIC DISEASE . 39(3): 341-353. Nº de cites: 66
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Llorca-Cardeñosa A, Català-Mora J, Garcia-Cazorla A, Meavilla-Olivas SM and Castejón-Ponce E.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Archivos De La Sociedad Española De Oftalmología . 91(5): 236-239.
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François C, Ripollés P, Bosch-Galceran L, García-Alix A, Muchart-Lopez J, Sierpowska J, Fons-Estupina C, Solé J, Rebollo M, Gaitán H and Rodriguez-Fornells A.
Language learning and brain reorganization in a 3.5-year-old child with left perinatal stroke revealed using structural and functional connectivity
Cortex . 77: 95-118. Nº de cites: 23
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De Oyarzabal-Sanz AL, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, Garcia-Cazorla A, Artuch-Iriberri R, Ugarte M and Rodríguez-Pombo P.
Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE . 1862(4): 592-600. Nº de cites: 27
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Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J and Chakrapani A.
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study
ORPHANET JOURNAL OF RARE DISEASES . 11: 32-32. Nº de cites: 34
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Jamiolkowski D, Kölker S, Glahn EM, Baric I, Zeman J, Baumgartner MR, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P and E-IMD consortium.
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 39(2): 231-241. Nº de cites: 31
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Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero-Siles D, Montero-Sanchez R, Pineda M, O'Callaghan-Gordo M, Alcázar-Fabra M, Salviati L, Artuch-Iriberri R and Navas P.
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content
EUROPEAN JOURNAL OF HUMAN GENETICS . 24(3): 367-372. Nº de cites: 15