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	1.	[Congenital disorders of glycosylation. Their diagnosis and treatment]. [electronic resource] by Pérez-Cerdá, C Ugarte, M Producer: 20080617 In: Revista de neurologia vol. 43 Suppl 1 Availability: No items available. Save to lists Add to cart (remove)
	2.	Investigation of enzyme defects in children with lactic acidosis. [electronic resource] by Merinero, B Pérez-Cerda, C Ugarte, M Producer: 19921223 In: Journal of inherited metabolic disease vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients. [electronic resource] by Pérez-Cerdá, C Rodríguez-Pombo, P Ugarte, M Producer: 19950509 In: Journal of inherited metabolic disease vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	[Human fibroblast bank for studying amino acid disorders and organic acidemias]. [electronic resource] by del Valle, J A Merinero, B Pérez-Cerdá, C Ugarte, M Producer: 19830119 In: Revista espanola de fisiologia vol. 38 Suppl Availability: No items available. Save to lists Add to cart (remove)
	5.	[Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity]. [electronic resource] by Vitoria, I Rausell, D González, I Pérez-Cerdá, C Dalmau, J Producer: 20150413 In: Anales de pediatria (Barcelona, Spain : 2003) vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients. [electronic resource] by Richard, E Desviat, L R Pérez, B Pérez-Cerdá, C Ugarte, M Producer: 19971224 In: Human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. [electronic resource] by Richard, E Desviat, L R Pérez, B Pérez-Cerdá, C Ugarte, M Producer: 19990527 In: Biochimica et biophysica acta vol. 1453 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene. [electronic resource] by Ibáñez-Micó, S Domingo Jiménez, R Pérez-Cerdá, C Ghandour-Fabre, D Producer: 20190610 In: Neurologia vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Biotinidase deficiency: result of treatment with biotin from age 12 years. [electronic resource] by Casado de Frías, E Campos-Castelló, J Careaga Maldonado, J Pérez Cerdá, C Producer: 20000412 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	New frequent mutation in the PCCB gene in Spanish propionic acidemia patients. [electronic resource] by Hoenicka, J Rodríguez-Pombo, P Pérez-Cerdá, C Muro, S Richard, E Ugarte, M Producer: 19990630 In: Human mutation vol. Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts. [electronic resource] by Pérez-Cerdá, C Clavero, S Pérez, B Rodríguez-Pombo, P Desviat, L R Ugarte, M Producer: 20030711 In: Biochimica et biophysica acta vol. 1638 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Prenatal diagnosis of propionic acidemia. [electronic resource] by Pérez-Cerdá, C Pérez, B Merinero, B Desviat, L R Rodríguez-Pombo, P Ugarte, M Producer: 20050418 In: Prenatal diagnosis vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis. [electronic resource] by Garcia-Muñoz, M J Belloque, J Merinero, B Pérez-Cerdá, C Sanz, P Ugarte, M Producer: 19891003 In: Prenatal diagnosis vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains. [electronic resource] by Muro, S Pérez, B Rodríguez-Pombo, P Desviat, L R Pérez-Cerdá, C Ugarte, M Producer: 20001116 In: Journal of inherited metabolic disease vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Propionic acidemia: mutation update and functional and structural effects of the variant alleles. [electronic resource] by Desviat, L R Pérez, B Pérez-Cerdá, C Rodríguez-Pombo, P Clavero, S Ugarte, M Producer: 20050321 In: Molecular genetics and metabolism vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A new case of succinyl-CoA: acetoacetate transferase deficiency. [electronic resource] by Pérez-Cerdá, C Merinero, B Sanz, P Jiménez, A Hernández, C García, M J Ugarte, M Producer: 19921116 In: Journal of inherited metabolic disease vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. [electronic resource] by Rüetschi, U Cerone, R Pérez-Cerda, C Schiaffino, M C Standing, S Ugarte, M Holme, E Producer: 20000821 In: Human genetics vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	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. [electronic resource] by Arranz, J A Piñol, F Kozak, L Pérez-Cerdá, C Cormand, B Ugarte, M Riudor, E Producer: 20021112 In: Human mutation vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia. [electronic resource] by Muro, S Perez-Cerdá, C Roddríguez-Pombo, P Pérez, B Briones, P Ribes, A Ugarte, M Producer: 19990824 In: Journal of medical genetics vol. 36 Availability: No items available. Save to lists Add to cart (remove)
	20.	Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits. [electronic resource] by Rodriguez-Pombo, P Pérez-Cerdá, C Desviat, L R Pérez, B Ugarte, M Rodríguez-Pombo, P Producer: 20020618 In: Molecular genetics and metabolism vol. 75 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 60 results.