Protein misfolding diseases: Prospects of pharmacological treatment
Gámez, A., Yuste‐Checa, P., Brasil, S., Briso‐Montiano, Á., Desviat, L.R., Ugarte, M., Pérez‐Cerdá, C., Pérez, B.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
Get full text
Journal Article
Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG
Yuste-Checa, P., Medrano, C., Gámez, A., Desviat, L.R., Matthijs, G., Ugarte, M., Pérez-Cerdá, C., Pérez, B.
Published in Clinical genetics (01.01.2015)
Published in Clinical genetics (01.01.2015)
Get full text
Journal Article
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I
Pérez-Carro, R., Sánchez-Alcudia, R., Pérez, B., Navarrete, R., Pérez-Cerdá, C., Ugarte, M., Desviat, L.R.
Published in Clinical genetics (01.08.2014)
Published in Clinical genetics (01.08.2014)
Get full text
Journal Article
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation
Peña‐Quintana, L., Scherer, G., Curbelo‐Estévez, M.L., Jiménez‐Acosta, F., Hartmann, B., La Roche, F., Meavilla‐Olivas, S., Pérez‐Cerdá, C., García‐Segarra, N., Giguère, Y., Huppke, P., Mitchell, G.A., Mönch, E., Trump, D., Vianey‐Saban, C., Trimble, E.R., Vitoria‐Miñana, I., Reyes‐Suárez, D., Ramírez‐Lorenzo, T., Tugores, A.
Published in Clinical genetics (01.09.2017)
Published in Clinical genetics (01.09.2017)
Get full text
Journal Article
Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers
Merinero, B., Alcaide, P., Martín-Hernández, E., Morais, A., García-Silva, M. T., Quijada-Fraile, P., Pedrón-Giner, C., Dulin, E., Yahyaoui, R., Egea, J. M., Belanger-Quintana, A., Blasco-Alonso, J., Fernandez Ruano, M. L., Besga, B., Ferrer-López, I., Leal, F., Ugarte, M., Ruiz-Sala, P., Pérez, B., Pérez-Cerdá, C.
Published in JIMD Reports, Volume 39 (01.01.2018)
Published in JIMD Reports, Volume 39 (01.01.2018)
Get full text
Book Chapter
Journal Article
Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency
Ortez, C., Jou, C., Cortès-Saladelafont, E., Moreno, J., Pérez, A., Ormazábal, A., Pérez-Cerdá, C., Pérez, B., Artuch, R., Cusi, V., García-Cazorla, A.
Published in Gene (15.12.2013)
Published in Gene (15.12.2013)
Get full text
Journal Article
Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group
Merinero, B., Pérez, B., Pérez-Cerdá, C., Rincón, A., Desviat, L. R., Martínez, M. A., Sala, P. Ruiz, García, M. J., Aldamiz-Echevarría, L., Campos, J., Cornejo, V., del Toro, M., Mahfoud, A., Martínez-Pardo, M., Parini, R., Pedrón, C., Peña-Quintana, L., Pérez, M., Pourfarzam, M., Ugarte, M.
Published in Journal of inherited metabolic disease (01.02.2008)
Published in Journal of inherited metabolic disease (01.02.2008)
Get full text
Journal Article
Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations
Pérez-Dueñas, B, García-Cazorla, A, Pineda, M, Poo, P, Campistol, J, Cusí, V, Schollen, E, Matthijs, G, Grunewald, S, Briones, P, Pérez-Cerdá, C, Artuch, R, Vilaseca, M.A
Published in European journal of paediatric neurology (01.09.2009)
Published in European journal of paediatric neurology (01.09.2009)
Get full text
Journal Article
Thirteen Years Experience with Selective Screening for Disorders in Purine and Pyrimidine Metabolism
Castro, M., Carrillo, R., García, F., Sanz, P., Ferrer, I., Ruiz-Sala, P., Vega, A. I., Ruíz Desviat, L., Pérez, B., Pérez-Cerdá, C., Merinero, B., Ugarte, M.
Published in Nucleosides, nucleotides & nucleic acids (01.01.2014)
Published in Nucleosides, nucleotides & nucleic acids (01.01.2014)
Get full text
Journal Article
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy
Merinero, B., Pérez‐Cerdá, C., Ruiz Sala, P., Ferrer, I., García, M. J., Martínez Pardo, M., Belanger‐Quintana, A., Mota, J. L., Martin‐Hernández, E., Vianey‐Saban, C., Bischoff, C., Gregersen, N., Ugarte, M.
Published in Journal of inherited metabolic disease (01.10.2006)
Published in Journal of inherited metabolic disease (01.10.2006)
Get full text
Journal Article
Proteostasis regulators as potential rescuers of PMM2 activity
Vilas, A., Yuste-Checa, P., Gallego, D., Desviat, L.R., Ugarte, M., Pérez-Cerda, C., Gámez, A., Pérez, B.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.07.2020)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.07.2020)
Get full text
Journal Article
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients
Arranz, J.A., Piñol, F., Kozak, L., Pérez-Cerdá, C., Cormand, B., Ugarte, M., Riudor, E.
Published in Human mutation (01.09.2002)
Published in Human mutation (01.09.2002)
Get full text
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)
Get full text
Journal Article
Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome
Jiménez Legido, M, Cortés Ledesma, C, Bernardino Cuesta, B, López Marín, L, Cantarín Extremera, V, Pérez-Cerdá, C, Pérez González, B, López Martín, E, González Gutiérrez-Solana, L
Published in Neurología (Barcelona, English ed. ) (01.03.2022)
Published in Neurología (Barcelona, English ed. ) (01.03.2022)
Get full text
Journal Article
Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides
Martín-Hernández, E, Quijada-Fraile, P, Oliveros-Leal, L, García-Silva, MT, Pérez-Cerdá, C, Baro-Fernández, M, Pérez-Alonso, V, Vivanco, JL
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
Get full text
Book Chapter
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)
Get full text
Journal Article
Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome
Jiménez Legido, M., Cortés Ledesma, C., Bernardino Cuesta, B., López Marín, L., Cantarín Extremera, V., Pérez-Cerdá, C., Pérez González, B., López Martín, E., González Gutiérrez-Solana, L.
Published in Neurología (Barcelona, English ed. ) (01.03.2022)
Published in Neurología (Barcelona, English ed. ) (01.03.2022)
Get full text
Journal Article
Potential relationship between genotype and clinical outcome in propionic acidaemia patients
Pérez-Cerdá, C, Merinero, B, Rodríguez-Pombo, P, Pérez, B, Desviat, L R, Muro, S, Richard, E, García, M J, Gangoiti, J, Ruiz Sala, P, Sanz, P, Briones, P, Ribes, A, Martínez-Pardo, M, Campistol, J, Pérez, M, Lama, R, Murga, M L, Lema-Garrett, T, Verdú, A, Ugarte, M
Published in European journal of human genetics : EJHG (01.03.2000)
Published in European journal of human genetics : EJHG (01.03.2000)
Get full text
Journal Article