Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Por Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.
Publicado no J Inherit Metab Dis (2015)

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease

Por Fernández-Guerra, Paula, Birkler, Rune I D, Merinero, Begoña, Ugarte, Magdalena, Gregersen, Niels, Rodríguez-Pombo, Pilar, Bross, Peter, Palmfeldt, Johan
Publicado em 2014

Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

Por Vitoria, Isidro, Martín-Hernández, Elena, Peña-Quintana, Luis, Bueno, María, Quijada-Fraile, Pilar, Dalmau, Jaime, Molina-Marrero, Sofia, Pérez, Belén, Merinero, Begoña
Publicado no JIMD Rep (2015)

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

Por Jorge-Finnigan, Ana, Brasil, Sandra, Underhaug, Jarl, Ruíz-Sala, Pedro, Merinero, Begoña, Banerjee, Ruma, Desviat, Lourdes R., Ugarte, Magdalena, Martinez, Aurora, Pérez, Belén
Publicado em 2013

Functional and Structural Analysis of Five Mutations Identified in Methylmalonic Aciduria cbIB Type

Por Jorge-Finnigan, Ana, Aguado, Cristina, Sánchez-Alcudia, Rocio, Abia, David, Richard, Eva, Merinero, Begoña, Gámez, Alejandra, Banerjee, Ruma, Desviat, Lourdes R., Ugarte, Magdalena, Pérez, Belen
Publicado em 2010

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

Por Navarro-Sastre, Aleix, Tort, Frederic, Stehling, Oliver, Uzarska, Marta A., Arranz, José Antonio, del Toro, Mireia, Labayru, M. Teresa, Landa, Joseba, Font, Aida, Garcia-Villoria, Judit, Merinero, Begoña, Ugarte, Magdalena, Gutierrez-Solana, Luis Gonzalez, Campistol, Jaume, Garcia-Cazorla, Angels, Vaquerizo, Julian, Riudor, Encarnació, Briones, Paz, Elpeleg, Orly, Ribes, Antonia, Lill, Roland
Publicado em 2011

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