Publicacions
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Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Nº de cites: 8
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De Oyarzabal-Sanz AL, Musokhranova U, O'Callaghan-Gordo M, Bravo Alonso, Irene, Rejas, María Teresa, Armstrong-Moron J, Rodríguez Pombo, Pilar and Garcia-Cazorla A.
Energy dysfunction in Rett syndrome: studying a neurogenetic disorder from the metabolic perspective
JOURNAL OF INHERITED METABOLIC DISEASE . 42(S1): .
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Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
SCIENTIFIC REPORTS . 9(1): 11983-11983. Nº de cites: 12
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Saudubray JM, Mochel F, Lamari F and Garcia-Cazorla A.
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians
JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 706-727. Nº de cites: 29
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Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S and UCDC and the E-IMD consortia study group.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
ANNALS OF NEUROLOGY . 86(1): 116-128. Nº de cites: 42
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Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism
SCIENTIFIC REPORTS . 9: 9128-9128. Nº de cites: 4
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Soto D, Olivella M, Grau-Páez C, Armstrong-Moron J, Alcon C, Gasull X, Santos-Gómez A, Locubiche S, de Salazar MG, García-Díaz R, Gratacòs-Batlle E, Ramos-Vicente D, Chu-Van E, Colsch B, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy
SCIENCE SIGNALING . 12(586): . Nº de cites: 52
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Sánchez-Iglesias S, Crocker M, O'Callaghan-Gordo M, Darling A, Garcia-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ and Araújo-Vilar D.
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Neurogenetics . 20(2): 73-82. Nº de cites: 7
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Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Lund, Allan M., Rizopoulos, Dimitris, Kolker, Stefan, Williams, Monique, Horster, F., Jelsig, A. M., de Lonlay, P., Wijburg, F. A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M. R., Haeberle, J., Blasco-Alonso, J., Burlina, A. B., Rubert, L., Garcia-Cazorla A, Saladelafont, E. Cortes, I, Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grunewald, S., Chakrapan, A., Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Karall, D., Scholl-Buergi, S., De Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Pena-Qiuntana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I, Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lusebrink, N., Jalan, A., Sokal, E., Legros, V, Nassogne, M. C. and Baric, I.
Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
MOLECULAR GENETICS AND METABOLISM . 126(4): 397-405. Nº de cites: 23
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Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, Garcia-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L, Rigalleau V, Touati G, Aldamiz-Echevarria L, Cathebras P, Eyer D, Brunet D, Damaj L, Dobbelaere D, Gay C, Hiéronimus S, Levrat V and Maillot F.
Betaine anhydrous in homocystinuria: results from the RoCH registry
ORPHANET JOURNAL OF RARE DISEASES . 14: 66-66. Nº de cites: 14