Long‐term follow‐up with filter paper samples in patients with propionic acidemia

Por Stanescu, Sinziana, Belanger‐Quintana, Amaya, Fernández‐Felix, Borja Manuel, Pérez‐Cerdá, Celia, Merinero, Begoña, Ruiz‐Sala, Pedro, Arrieta, Francisco, Martínez‐Pardo, Mercedes
Publicado no JIMD Rep (2020)

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress

Por Yuste-Checa, Patricia, Vega, Ana I., Martín-Higueras, Cristina, Medrano, Celia, Gámez, Alejandra, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén
Publicado no PLoS One (2017)

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia

Por Rivera-Barahona, Ana, Fulgencio-Covián, Alejandro, Pérez-Cerdá, Celia, Ramos, Ricardo, Barry, Michael A., Ugarte, Magdalena, Pérez, Belén, Richard, Eva, Desviat, Lourdes R
Publicado no Sci Rep (2017)

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

Por Puisac, Beatriz, Arnedo, María, Casale, Cesar H., Ribate, María Pilar, Castiella, Tomás, Ramos, Feliciano J., Ribes, Antonia, Pérez-Cerdá, Celia, Casals, Nuria, Hegardt, Fausto G., Pié, Juan
Publicado em 2010

The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

Por Gallardo, M. Esther, Desviat, Lourdes R., Rodríguez, José M., Esparza-Gordillo, Jorge, Pérez-Cerdá, Celia, Pérez, Belén, Rodríguez-Pombo, Pilar, Criado, Olga, Sanz, Raul, Morton, D. Holmes, Gibson, K. Michael, Le, Thuy P., Ribes, Antonia, de Córdoba, Santiago Rodríguez, Ugarte, Magdalena, Peñalva, Miguel Á.
Publicado em 2001

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Por Serrano, Mercedes, de Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Velázquez, Ramón, Poo, M. Pilar, Fons, Carmen, O’Callaghan, M. Mar, García-Cazorla, Angels, Boix, Cristina, Robles, Bernabé, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura, Artuch, Rafael, Pérez-Cerdá, Celia, Jaeken, Jaak, Pérez, Belén, Pérez-Dueñas, Belén
Publicado no Orphanet J Rare Dis (2015)

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

Por Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F., López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M Llanos, Gutiérrez-Solana, Luis G., Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya, Alfons, Fernández-Fernández, José M., Serrano, Mercedes
Publicado no Int J Mol Sci (2018)

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Por Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam
Publicado em 2014

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

Por Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel Tavares, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Publicado no Orphanet J Rare Dis (2018)

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

Por Bravo-Alonso, Irene, Navarrete, Rosa, Vega, Ana Isabel, Ruíz-Sala, Pedro, García Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Belanger-Quintana, Amaya, Stanescu, Sinziana, Bueno, María, Vitoria, Isidro, Toledo, Laura, Couce, María Luz, García-Jiménez, Inmaculada, Ramos-Ruiz, Ricardo, Martín, Miguel Ángel, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén, Rodríguez-Pombo, Pilar
Publicado no J Clin Med (2019)

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

Por Navarrete, Rosa, Leal, Fátima, Vega, Ana I., Morais-López, Ana, Garcia-Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bergua, Ana, Vives, Inmaculada, García-Jiménez, Inmaculada, Yahyaoui, Raquel, Pedrón-Giner, Consuelo, Belanger-Quintana, Amaya, Stanescu, Sinziana, Cañedo, Elvira, García-Campos, Oscar, Bueno-Delgado, María, Delgado-Pecellín, Carmen, Vitoria, Isidro, Rausell, María Dolores, Balmaseda, Elena, Couce, Mari Luz, Desviat, Lourdes R., Merinero, Begoña, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén
Publicado no Eur J Hum Genet (2019)

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

Por Martín-Hernández, Elena, Aldámiz-Echevarría, Luis, Castejón-Ponce, Esperanza, Pedrón-Giner, Consuelo, Couce, María Luz, Serrano-Nieto, Juliana, Pintos-Morell, Guillem, Bélanger-Quintana, Amaya, Martínez-Pardo, Mercedes, García-Silva, María Teresa, Quijada-Fraile, Pilar, Vitoria-Miñana, Isidro, Dalmau, Jaime, Lama-More, Rosa A, Bueno-Delgado, María Amor, del Toro-Riera, Mirella, García-Jiménez, Inmaculada, Sierra-Córcoles, Concepción, Ruiz-Pons, Mónica, Peña-Quintana, Luis J, Vives-Piñera, Inmaculada, Moráis, Ana, Balmaseda-Serrano, Elena, Meavilla, Silvia, Sanjurjo-Crespo, Pablo, Pérez-Cerdá, Celia
Publicado no Orphanet J Rare Dis (2014)

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Por Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A.W., Holleboom, Adriaan G., Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P.H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J.
Publicado no Am J Hum Genet (2016)

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Por Cabezas, Oscar Rubio, Flanagan, Sarah E., Stanescu, Horia, García-Martínez, Elena, Caswell, Richard, Lango-Allen, Hana, Antón-Gamero, Montserrat, Argente, Jesús, Bussell, Anna-Marie, Brandli, Andre, Cheshire, Chris, Crowne, Elizabeth, Dumitriu, Simona, Drynda, Robert, Hamilton-Shield, Julian P, Hayes, Wesley, Hofherr, Alexis, Iancu, Daniela, Issler, Naomi, Jefferies, Craig, Jones, Peter, Johnson, Matthew, Kesselheim, Anne, Klootwijk, Enriko, Koettgen, Michael, Lewis, Wendy, Martos, José María, Mozere, Monika, Norman, Jill, Patel, Vaksha, Parrish, Andrew, Pérez-Cerdá, Celia, Pozo, Jesús, Rahman, Sofia A, Sebire, Neil, Tekman, Mehmet, Turnpenny, Peter D., Hoff, William van’t, Viering, Daan H.H.M., Weedon, Michael N., Wilson, Patricia, Guay-Woodford, Lisa, Kleta, Robert, Hussain, Khalid, Ellard, Sian, Bockenhauer, Detlef
Publicado no J Am Soc Nephrol (2017)