Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism
Oyarzabal, A., Bravo-Alonso, I., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.
Published in Biochimica et biophysica acta (01.04.2016)
Published in Biochimica et biophysica acta (01.04.2016)
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Journal Article
Impact of Gene Repression on Biofilm Formation of Vibrio cholerae
Pombo, Joao P, Ebenberger, Stephan P, Müller, Anna M, Wolinski, Heimo, Schild, Stefan
Published in Frontiers in microbiology (02.06.2022)
Published in Frontiers in microbiology (02.06.2022)
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Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning
Briso-Montiano, Á., Vilas, A., Richard, E., Ruiz-Sala, P., Morato, E., Desviat, L.R., Ugarte, M., Rodríguez-Pombo, P., Pérez, B.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.09.2022)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.09.2022)
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Journal Article
Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias
Stojiljkovic, M., Klaassen, K., Djordjevic, M., Sarajlija, A., Brasil, S., Kecman, B., Grkovic, S., Kostic, J., Rodriguez-Pombo, P., Desviat, L.R., Pavlovic, S., Perez, B.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Journal Article
molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America
Pérez, Belén, Angaroni, Celia, Sánchez-Alcudia, Rocio, Merinero, Begoña, Pérez-Cerdá, Celia, Specola, N, Rodríguez-Pombo, P, Wajner, Moacir, de Kremer, Raquel Dodelson, Cornejo, Verónica, Desviat, Lourdes R, Ugarte, Magdalena
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
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Journal Article
Conference Proceeding
On semivalues on commutative rings
Bernardes, Nilson C., Pombo, Dinamérico P.
Published in Periodica mathematica Hungarica (01.06.2017)
Published in Periodica mathematica Hungarica (01.06.2017)
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Journal Article
Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease
Pérez, B., Rodríguez-Pombo, P., Ugarte, M., Desviat, L.R.
Published in Molecular syndromology (01.11.2012)
Published in Molecular syndromology (01.11.2012)
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Journal Article
Creatine transporter deficiency in two adult patients with static encephalopathy
Sempere, A., Fons, C., Arias, A., Rodríguez-Pombo, P., Colomer, R., Merinero, B., Alcaide, P., Capdevila, A., Ribes, A., Artuch, R., Campistol, J.
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
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Journal Article
Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment
Bravo-Alonso, I., Oyarzabal, A., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.
Published in Data in brief (01.06.2016)
Published in Data in brief (01.06.2016)
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Journal Article
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation
Manara, R., Del Rizzo, M., Burlina, A. P., Bordugo, A., Citton, V., Rodriguez-Pombo, P., Ugarte, M., Burlina, A. B.
Published in Journal of inherited metabolic disease (01.05.2012)
Published in Journal of inherited metabolic disease (01.05.2012)
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Journal Article
PP03.2 – 2683: Next generation sequencing allows the identification of NDUFS4 defect in a patient with fatal early Leigh syndrome and deficiencies in pyruvate dehydrogenase and multiple respiratory chain complexes
Escobar, J.D. Ortigoza, Oyarzabal, A, Montero, R, Artuch, R, Gort, L, Briones, P, González, B. Pérez, Rodriguez-Pombo, P, Dueñas, B. Pérez
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Journal Article
OP7 – 2635: Does SLC19A3 expression analysis predict thiamine responsiveness?
Escobar, J.D. Ortigoza, Jou, C, Oyarzabal, A, Soto, R. Blanco, Pereira, J. Marquez, Ferrer, I, Rodriguez-Pombo, P, Pérez-Dueñas, B
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Journal Article
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts
Pérez-Cerdá, C., Clavero, S., Pérez, B., Rodrı́guez-Pombo, P., Desviat, L.R., Ugarte, M.
Published in Biochimica et biophysica acta (20.05.2003)
Published in Biochimica et biophysica acta (20.05.2003)
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Journal Article
Prenatal diagnosis of propionic acidemia
Pérez-Cerdá, C., Pérez, B., Merinero, B., Desviat, L. R., Pombo, P. Rodríguez, Ugarte, M.
Published in Prenatal diagnosis (15.12.2004)
Published in Prenatal diagnosis (15.12.2004)
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