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	1.	Mutational spectrum of maple syrup urine disease in Spain. [electronic resource] by Rodríguez-Pombo, Pilar Navarrete, Rosa Merinero, Begoña Gómez-Puertas, Paulino Ugarte, Magdalena Producer: 20060807 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	[Severe pulmonary hypertension: initial manifestation of a new deficiency of the lipoic acid metabolism]. [electronic resource] by Lacasa Maseri, Andrea Yun Castilla, Cristina Mota Ybancos, Jose Luis Rodríguez-Pombo, Pilar Producer: 20150724 In: Medicina clinica vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. [electronic resource] by Quental, Sofia Gusmão, Alfredo Rodríguez-Pombo, Pilar Ugarte, Magdalena Vilarinho, Laura Amorim, António Prata, Maria J Producer: 20090708 In: Annals of human genetics vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	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)
	5.	Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. [electronic resource] by Fernández-Guerra, Paula Navarrete, Rosa Weisiger, Kara Desviat, Lourdes R Packman, Seymour Ugarte, Magdalena Rodríguez-Pombo, Pilar Producer: 20140408 In: Journal of inherited metabolic disease vol. 33 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. [electronic resource] by Oyarzabal, Alfonso Martínez-Pardo, Mercedes Merinero, Begoña Navarrete, Rosa Desviat, Lourdes R Ugarte, Magdalena Rodríguez-Pombo, Pilar Producer: 20130726 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. [electronic resource] by Richard, Eva Gallego-Villar, Lorena Rivera-Barahona, Ana Oyarzábal, Alfonso Pérez, Belén Rodríguez-Pombo, Pilar Desviat, Lourdes R Producer: 20181022 In: Oxidative medicine and cellular longevity vol. 2018 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene. [electronic resource] by Alcaide, Patricia Rodriguez-Pombo, Pilar Ruiz-Sala, Pedro Ferrer, Isaac Castro, Pedro Ruiz Martin, Yolanda Merinero, Begoña Ugarte, Magdalena Producer: 20100507 In: Developmental medicine and child neurology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Treatment of genetic defects of thiamine transport and metabolism. [electronic resource] by Ortigoza-Escobar, Juan Darío Molero-Luis, Marta Arias, Angela Martí-Sánchez, Laura Rodriguez-Pombo, Pilar Artuch, Rafael Pérez-Dueñas, Belén Producer: 20170608 In: Expert review of neurotherapeutics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease. [electronic resource] by Fernández-Guerra, Paula Birkler, Rune I D Merinero, Begoña Ugarte, Magdalena Gregersen, Niels Rodríguez-Pombo, Pilar Bross, Peter Palmfeldt, Johan Producer: 20141021 In: Molecular genetics & genomic medicine vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Thiamine transporter-2 deficiency: outcome and treatment monitoring. [electronic resource] by Ortigoza-Escobar, Juan Darío Serrano, Mercedes Molero, Marta Oyarzabal, Alfonso Rebollo, Mónica Muchart, Jordi Artuch, Rafael Rodríguez-Pombo, Pilar Pérez-Dueñas, Belén Producer: 20150330 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Defining the pathogenicity of creatine deficiency syndrome. [electronic resource] by Alcaide, Patricia Merinero, Begoña Ruiz-Sala, Pedro Richard, Eva Navarrete, Rosa Arias, Angela Ribes, Antonia Artuch, Rafael Campistol, Jaume Ugarte, Magdalena Rodríguez-Pombo, Pilar Producer: 20120327 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. [electronic resource] by Vega, Ana I Medrano, Celia Navarrete, Rosa Desviat, Lourdes R Merinero, Begoña Rodríguez-Pombo, Pilar Vitoria, Isidro Ugarte, Magdalena Pérez-Cerdá, Celia Pérez, Belen Producer: 20170915 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene. [electronic resource] by Arribas-Carreira, Laura Bravo-Alonso, Irene López-Márquez, Arístides Alonso-Barroso, Esmeralda Briso-Montiano, Álvaro Arroyo, Ignacio Ugarte, Magdalena Pérez, Belén Pérez-Cerdá, Celia Rodríguez-Pombo, Pilar Richard, Eva Producer: 20200427 In: Stem cell research vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. [electronic resource] by Sempere, Angela Arias, Angela Farré, Guillermo García-Villoria, Judith Rodríguez-Pombo, Pilar Desviat, Lurdes R Merinero, Begoña García-Cazorla, Angels Vilaseca, Maria A Ribes, Antonia Artuch, Rafael Campistol, Jaume Producer: 20100525 In: Journal of inherited metabolic disease vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]. [electronic resource] by Sempere, Angela Fons, Carmen Arias, Angela Rodríguez-Pombo, Pilar Merinero, Begoña Alcaide, Patricia Capdevila, Antoni Ribes, Antonia Duque, Rosario Eirís, Jesús Poo, Pilar Fernández-Alvarez, Emilio Campistol, Jaume Artuch, Rafael Producer: 20100203 In: Medicina clinica vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors. [electronic resource] by Ortigoza-Escobar, Juan Darío Alfadhel, Majid Molero-Luis, Marta Darin, Niklas Spiegel, Ronen de Coo, Irenaeus F Gerards, Mike Taylor, Robert W Artuch, Rafael Nashabat, Marwan Rodríguez-Pombo, Pilar Tabarki, Brahim Pérez-Dueñas, Belén Producer: 20171002 In: Annals of neurology vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Ndufs4 related Leigh syndrome: A case report and review of the literature. [electronic resource] by Ortigoza-Escobar, Juan Darío Oyarzabal, Alfonso Montero, Raquel Artuch, Rafael Jou, Cristina Jiménez, Cecilia Gort, Laura Briones, Paz Muchart, Jordi López-Gallardo, Ester Emperador, Sonia Pesini, Eduardo Ruiz Montoya, Julio Pérez, Belén Rodríguez-Pombo, Pilar Pérez-Dueñas, Belén Producer: 20170509 In: Mitochondrion vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. [electronic resource] by Ortigoza-Escobar, Juan Darío Molero-Luis, Marta Arias, Angela Oyarzabal, Alfonso Darín, Niklas Serrano, Mercedes Garcia-Cazorla, Angels Tondo, Mireia Hernández, María Garcia-Villoria, Judit Casado, Mercedes Gort, Laura Mayr, Johannes A Rodríguez-Pombo, Pilar Ribes, Antonia Artuch, Rafael Pérez-Dueñas, Belén Producer: 20160524 In: Brain : a journal of neurology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. [electronic resource] by Bravo-Alonso, Irene Navarrete, Rosa Arribas-Carreira, Laura Perona, Almudena Abia, David Couce, María Luz García-Cazorla, Angels Morais, Ana Domingo, Rosario Ramos, María Antonia Swanson, Michael A Van Hove, Johan L K Ugarte, Magdalena Pérez, Belén Pérez-Cerdá, Celia Rodríguez-Pombo, Pilar Producer: 20180220 In: Human mutation vol. 38 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 28 results.