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	1.	Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. [electronic resource] by Cazorla, María R Verdú, Alfonso Pérez-Cerdá, Celia Ribes, Antonia Producer: 20070614 In: Pediatric neurology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases. [electronic resource] by Ferrer-López, Isaac Ruiz-Sala, Pedro Merinero, Begoña Pérez-Cerdá, Celia Ugarte, Magdalena Producer: 20140715 In: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences vol. 944 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia. [electronic resource] by Sánchez-Alcudia, Rocío Pérez, Belén Pérez-Cerdá, Celia Ugarte, M Desviat, Lourdes R Producer: 20111024 In: Molecular genetics and metabolism vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	New splicing mutations in propionic acidemia. [electronic resource] by Desviat, Lourdes R Clavero, Sonia Perez-Cerdá, Celia Navarrete, Rosa Ugarte, Magdalena Perez, Belen Producer: 20070117 In: Journal of human genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias. [electronic resource] by Ferrer, Isaac Ruiz-Sala, Pedro Vicente, Yolanda Merinero, Begoña Pérez-Cerdá, Celia Ugarte, Magdalena Producer: 20080304 In: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences vol. 860 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease. [electronic resource] by Pérez-Cerdá, Celia Quelhas, Dulce Vega, Ana I Ecay, Jesús Vilarinho, Laura Ugarte, Magdalena Producer: 20080212 In: Clinical chemistry vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Functional characterization of PCCA mutations causing propionic acidemia. [electronic resource] by Clavero, Sonia Martínez, Maria Angeles Pérez, Belén Pérez-Cerdá, Celia Ugarte, Magdalena Desviat, Lourdes R Producer: 20021224 In: Biochimica et biophysica acta vol. 1588 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. [electronic resource] by Vega, Ana I Pérez-Cerdá, Celia Desviat, Lourdes R Matthijs, Gert Ugarte, Magdalena Pérez, Belén Producer: 20090730 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia? [electronic resource] by Lam, Christina Desviat, Lourdes R Perez-Cerdá, Celia Ugarte, Magdalena Barshop, Bruce A Cederbaum, Stephen Producer: 20120224 In: Molecular genetics and metabolism vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE. [electronic resource] by Richard, Eva Vega, Ana I Pérez, Belén Roche, Carmen Velázquez, Ramón Ugarte, Magdalena Pérez-Cerdá, Celia Producer: 20090213 In: Biochemical and biophysical research communications vol. 379 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase. [electronic resource] by Rodríguez-Pombo, Pilar Pérez-Cerdá, Celia Pérez, Belén Desviat, Lourdes R Sánchez-Pulido, Luis Ugarte, Magdalena Producer: 20050809 In: Biochimica et biophysica acta vol. 1740 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia. [electronic resource] by Bustamante-Aragones, Ana Pérez-Cerdá, Celia Pérez, Belén de Alba, Marta Rodriguez Ugarte, Magdalena Ramos, Carmen Producer: 20081103 In: Molecular genetics and metabolism vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. [electronic resource] by Desviat, Lourdes R Sanchez-Alcudia, Rocío Pérez, Belén Pérez-Cerdá, Celia Navarrete, Rosa Vijzelaar, Raymon Ugarte, Magdalena Producer: 20090515 In: Molecular genetics and metabolism vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. [electronic resource] by Yuste-Checa, Patricia Gámez, Alejandra Brasil, Sandra Desviat, Lourdes R Ugarte, Magdalena Pérez-Cerdá, Celia Pérez, Belén Producer: 20160510 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia. [electronic resource] by Gallego-Villar, Lorena Pérez-Cerdá, Celia Pérez, Belén Abia, David Ugarte, Magdalena Richard, Eva Desviat, Lourdes R Producer: 20140519 In: Journal of inherited metabolic disease vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. [electronic resource] by Pérez, Belén Medrano, Celia Ecay, Maria Jesus Ruiz-Sala, Pedro Martínez-Pardo, Mercedes Ugarte, Magdalena Pérez-Cerdá, Celia Producer: 20131231 In: Journal of inherited metabolic disease vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. [electronic resource] by Pérez, Belén Nevado, Julián Lapunzina, Pablo Gallego, Lorena Pérez-Cerdá, Celia Merinero, Begoña Ugarte, Magdalena Desviat, Lourdes R Producer: 20120723 In: Molecular genetics and metabolism vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Propionic acidemia: unusual course with late onset and fatal outcome. [electronic resource] by Lücke, Thomas Pérez-Cerdá, Celia Baumgartner, Matthias Fowler, Brian Sander, Stefanie Sasse, Michael Scholl, Sabine Ugarte, Magdalena Das, Anibh Martin Producer: 20040727 In: Metabolism: clinical and experimental vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient. [electronic resource] by Lianou, Dimitra Gallego, Lorena Michelakakis, Helen Pérez-Cerdá, Celia Pérez, Belén Ginis, Stavroula Jakobs, Cornelis Ugarte, Magdalena Desviat, Lourdes R Producer: 20101021 In: Clinica chimica acta; international journal of clinical chemistry vol. 411 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. [electronic resource] by Vega, Ana Isabel Pérez-Cerdá, Celia Abia, David Gámez, Alejandra Briones, Paz Artuch, Rafael Desviat, Lourdes R Ugarte, Magdalena Pérez, Belén Producer: 20111202 In: Journal of inherited metabolic disease vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 66 results.