Biofilms by bacterial human pathogens: Clinical relevance - development, composition and regulation - therapeutical strategies von Schulze, Adina, Mitterer, Fabian, Pombo, Joao P, Schild, Stefan

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Impact of Gene Repression on Biofilm Formation of Vibrio cholerae von Pombo, Joao P, Ebenberger, Stephan P, Müller, Anna M, Wolinski, Heimo, Schild, Stefan

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Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism von Oyarzabal, A., Bravo-Alonso, I., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.

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Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning von Briso-Montiano, Á., Vilas, A., Richard, E., Ruiz-Sala, P., Morato, E., Desviat, L.R., Ugarte, M., Rodríguez-Pombo, P., Pérez, B.

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Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias von 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.

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molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America von 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

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On semivalues on commutative rings von Bernardes, Nilson C., Pombo, Dinamérico P.

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Addendum to the paper “Linearly topologized modules over a discrete valuation ring” von Mauro, Patricia Couto G., Pombo, Dinamérico P.

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Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease von Pérez, B., Rodríguez-Pombo, P., Ugarte, M., Desviat, L.R.

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Linearly compact modules of continuous mappings von Pombo, Dinamérico P.

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Creatine transporter deficiency in two adult patients with static encephalopathy von Sempere, A., Fons, C., Arias, A., Rodríguez-Pombo, P., Colomer, R., Merinero, B., Alcaide, P., Capdevila, A., Ribes, A., Artuch, R., Campistol, J.

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Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment von Bravo-Alonso, I., Oyarzabal, A., Sánchez-Aragó, M., Rejas, M.T., Merinero, B., García-Cazorla, A., Artuch, R., Ugarte, M., Rodríguez-Pombo, P.

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On exact sequences and strict bounded group homomorphisms von Pombo Jr, Dinamérico Pereira

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Propionic acidemia: identification of twenty-four novel mutations in Europe and North America von Pérez, B, Desviat, L.R, Rodrı́guez-Pombo, P, Clavero, S, Navarrete, R, Perez-Cerdá, C, Ugarte, M

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Wernicke-like encephalopathy during classic maple syrup urine disease decompensation von Manara, R., Del Rizzo, M., Burlina, A. P., Bordugo, A., Citton, V., Rodriguez-Pombo, P., Ugarte, M., Burlina, A. B.

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Propionic acidemia: mutation update and functional and structural effects of the variant alleles von Desviat, L.R., Pérez, B., Pérez-Cerdá, C., Rodríguez-Pombo, P., Clavero, S., Ugarte, M.

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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 mul... von Escobar, J.D. Ortigoza, Oyarzabal, A, Montero, R, Artuch, R, Gort, L, Briones, P, González, B. Pérez, Rodriguez-Pombo, P, Dueñas, B. Pérez

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OP7 – 2635: Does SLC19A3 expression analysis predict thiamine responsiveness? von Escobar, J.D. Ortigoza, Jou, C, Oyarzabal, A, Soto, R. Blanco, Pereira, J. Marquez, Ferrer, I, Rodriguez-Pombo, P, Pérez-Dueñas, B

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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors von Ortigoza‐Escobar, Juan Darío, Alfadhel, Majid, Molero‐Luis, Marta, Darin, Niklas, Spiegel, Ronen, de Coo, Irenaeus F., Gerards, Mike, Taylor, Robert W., Artuch, Rafael, Nashabat, Marwan, Rodríguez‐Pombo, Pilar, Tabarki, Brahim, Pérez‐Dueñas, Belén, Distelmaier, Felix, Hahn, Andreas, Morava, Eva, Banka, Siddharth, Debs, Rabab, Fraser, Jamie L., Isohanni, Pirjo, Lähdesmäki, Tuire, Livingston, John, Nadjar, Yann, Schuler, Elisabeth, Uusimaa, Johanna, Vanderver, Adeline, Friedman, Jennifer R., Zimbric, Michael R., McFarland, Robert, Santra, Saikat, Wassmer, Evangeline, Martí‐Sanchez, Laura, Darling, Alejandra

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Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts von Pérez-Cerdá, C., Clavero, S., Pérez, B., Rodrı́guez-Pombo, P., Desviat, L.R., Ugarte, M.

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