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Magdalena Ugarte

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Belén Pérez; Maria Jesus Ecay; Mercedes Martínez-Pardo; Celia Medrano; Pedro Ruiz-Sala; Magdalena Ugarte; Celia Pérez-Cerdá
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
Belén Pérez; Maria Ángeles Ruiz; Pedro Ruiz-Sala; Magdalena Ugarte; Maria Vázquez; Alfonso Verdú; Patricia Yuste-Checa; Marta San Miguel; Rocio Calvo; Oscar Campos; Margarita Castro; Lourdes Ruiz Desviat; Isaac Ferrer; Luis González Gutiérrez-Solana; Anil Jalan; Pablo Lapunzina; Laura López Marín; Begoña Merinero; Rosa Navarrete; Celia Pérez-Cerdá
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Alfonso Oyarzabal; Magdalena Ugarte; Lourdes R Desviat; Mercedes Martínez-Pardo; Begoña Merinero; Rosa Navarrete; Pilar Rodríguez-Pombo
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.

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2013: Belén Pérez; Maria Jesus Ecay; Mercedes Martínez-Pardo; Celia Medrano; Pedro Ruiz-Sala; Magdalena Ugarte; Celia Pérez-Cerdá
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
Journal of inherited metabolic disease 2013;36(3):535-42.
2013: Belén Pérez; Maria Ángeles Ruiz; Pedro Ruiz-Sala; Magdalena Ugarte; Maria Vázquez; Alfonso Verdú; Patricia Yuste-Checa; Marta San Miguel; Rocio Calvo; Oscar Campos; Margarita Castro; Lourdes Ruiz Desviat; Isaac Ferrer; Luis González Gutiérrez-Solana; Anil Jalan; Pablo Lapunzina; Laura López Marín; Begoña Merinero; Rosa Navarrete; Celia Pérez-Cerdá
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Epilepsia 2013;54(2):239-48.
2013: Alfonso Oyarzabal; Magdalena Ugarte; Lourdes R Desviat; Mercedes Martínez-Pardo; Begoña Merinero; Rosa Navarrete; Pilar Rodríguez-Pombo
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.
Human mutation 2013;34(2):355-62.
2013: Eva Richard; Magdalena Ugarte; Lourdes R Desviat; Belén Pérez
Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.
Journal of cellular biochemistry 2013;114(1):183-91.
2012: Rocío Sánchez-Alcudia; Magdalena Ugarte; Belén Pérez; Lourdes R Desviat
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.
Human mutation 2012;33(6):973-80.
2012: Belén Pérez; Celia Pérez-Cerdá; Magdalena Ugarte; Lorena Gallego; Pablo Lapunzina; Begoña Merinero; Julián Nevado; Lourdes R Desviat
Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases.
Molecular genetics and metabolism 2012;105(2):270-1.
2012: Lourdes R Desviat; Belén Pérez; Magdalena Ugarte
Minigenes to confirm exon skipping mutations.
Methods in molecular biology (Clifton, N.J.) 2012;867():37-47.
2011: María Luz Couce; José María Fraga; Angels García-Cazorla; María Teresa García Silva; Elena Martín-Hernández; Rosa Navarrete; Belén Pérez; Celia Pérez-Cerdá; Merçè Pineda; Jaume Campistol; Daisy Castiñeiras; Magdalena Ugarte
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].
Medicina clínica 2011;137(11):500-3.
2011: Ana Isabel Vega; Celia Pérez-Cerdá; Magdalena Ugarte; David Abia; Rafael Artuch; Paz Briones; Lourdes R Desviat; Alejandra Gámez; Belén Pérez
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
Journal of inherited metabolic disease 2011;34(4):929-39.
2011: Patricia Alcaide; Angela Arias; Rafael Artuch; Jaume Campistol; Begoña Merinero; Rosa Navarrete; Antonia Ribes; Eva Richard; Pedro Ruiz-Sala; Magdalena Ugarte; Pilar Rodríguez-Pombo
Defining the pathogenicity of creatine deficiency syndrome.
Human mutation 2011;32(3):282-91.
2011: Rocío Sánchez-Alcudia; Belén Pérez; Celia Pérez-Cerdá; Magdalena Ugarte; Lourdes R Desviat
Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.
Molecular genetics and metabolism 2011;102(2):134-8.
2011: Belén Pérez; Rafael Artuch; Paz Briones; M J Ecay; L Gort; Gert Matthijs; Dulce Quelhas; E Quintana; Magdalena Ugarte; A I Vega; Celia Pérez-Cerdá
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.
JIMD reports 2011;1():117-23.
2010: Belén Pérez; Celia Angaroni; Rocio Sánchez-Alcudia; Begoña Merinero; Celia Pérez-Cerdá; N Specola; Pilar Rodríguez-Pombo; Moacir Wajner; Raquel Dodelson de Kremer; Verónica Cornejo; Lourdes R Desviat; Magdalena Ugarte
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Journal of inherited metabolic disease 2010;33(Suppl 2):S307-14.
2010: Belen Pérez; Laura Rodríguez-Pascau; Lluïsa Vilageliu; Daniel Grinberg; Magdalena Ugarte; Lourdes R Desviat
Present and future of antisense therapy for splicing modulation in inherited metabolic disease.
Journal of inherited metabolic disease 2010;33(4):397-403.
2010: Henry Rivera; Begoña Merinero; Mercedes Martinez-Pardo; Ignacio Arroyo; Pedro Ruiz-Sala; Belen Bornstein; Clara Serra-Suhe; Esther Gallardo; Ramon Marti; Maria J Moran; Cristina Ugalde; Luis A Perez-Jurado; Antoni L Andreu; Rafael Garesse; Magdalena Ugarte; Joaquín Arenas; Miguel A Martin
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
Mitochondrion 2010;10(4):362-8.
2009: Belén Pérez; Ana Rincón; A Jorge-Finnigan; Eva Richard; Begoña Merinero; Magdalena Ugarte; Lourdes R Desviat
Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).
Human mutation 2009;30(12):1676-82.
2009: Eva Richard; Ana Jorge-Finnigan; Judit Garcia-Villoria; Begoña Merinero; Lourdes R Desviat; Laura Gort; Paz Briones; Fátima Leal; Celia Pérez-Cerdá; Antonia Ribes; Magdalena Ugarte; Belén Pérez
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
Human mutation 2009;30(11):1558-66.
2009: Sofia Quental; Alfredo Gusmão; Pilar Rodríguez-Pombo; Magdalena Ugarte; Laura Vilarinho; António Amorim; Maria João Prata
Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.
Annals of human genetics 2009;73(Pt 3):298-303.
2009: Ana I Vega; Celia Pérez-Cerdá; Lourdes R Desviat; Gert Matthijs; Magdalena Ugarte; Belén Pérez
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Human mutation 2009;30(5):795-803.
2009: Lourdes R Desviat; Rocío Sanchez-Alcudia; Belén Pérez; Celia Pérez-Cerdá; Rosa Navarrete; Raymon Vijzelaar; Magdalena Ugarte
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
Molecular genetics and metabolism 2009;96(4):171-6.
2009: Sebastián Menao; Eduardo López-Viñas; Cecilia Mir; Beatriz Puisac; Esther Gratacós; María Arnedo; Patricia Carrasco; Susana Moreno; Mónica Ramos; María Concepción Gil; Angeles Pié; Antonia Ribes; Celia Pérez-Cerda; Magdalena Ugarte; Peter T Clayton; Stanley H Korman; Dolors Serra; Guillermina Asins; Feliciano J Ramos; Paulino Gómez-Puertas; Fausto G Hegardt; Núria Casals; Juan Pié
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Human mutation 2009;30(3):E520-9.
2009: Eva Richard; Ana I Vega; Belén Pérez; Carmen Roche; Ramón Velázquez; Magdalena Ugarte; Celia Pérez-Cerdá
Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE.
Biochemical and biophysical research communications 2009;379(2):267-71.
2008: Begoña Merinero; Belén Pérez; Celia Pérez-Cerdá; A Rincón; Lourdes R Desviat; M A Martínez; P Ruiz Sala; María José García; L Aldamiz-Echevarría; J Campos; V Cornejo; M Del Toro; A Mahfoud; Mercedes Martínez-Pardo; R Parini; C Pedrón; L Peña-Quintana; M Pérez; morteza pourfarzam; Magdalena Ugarte
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Journal of inherited metabolic disease 2008;31(1):55-66.
2008: Celia Pérez-Cerdá; Dulce Quelhas; Ana I Vega; Jesús Ecay; Laura Vilarinho; Magdalena Ugarte
Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.
Clinical chemistry 2008;54(1):93-100.
2007: Isaac Ferrer; Pedro Ruiz-Sala; Yolanda Vicente; Begoña Merinero; Celia Pérez-Cerdá; Magdalena Ugarte
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.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2007;860(1):121-6.
2007: Ana Rincón; Cristina Aguado; Lourdes R Desviat; R Sánchez-Alcudia; Magdalena Ugarte; Belén Pérez
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
American journal of human genetics 2007;81(6):1262-70.
2007: Eva Richard; A Alvarez-Barrientos; Belén Pérez; Lourdes R Desviat; Magdalena Ugarte
Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway.
The Journal of pathology 2007;213(4):453-61.
2007: M D Bóveda; María Luz Couce; D E Castiñeiras; José A Cocho; Belén Pérez; Magdalena Ugarte; J M Fraga
The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.
Journal of inherited metabolic disease 2007;30(5):812.
2007: Cristina Aguado; Belén Pérez; María José García; Amaya Bélanger-Quintana; Mercedes Martínez-Pardo; Magdalena Ugarte; Lourdes R Desviat
BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.
Clinica chimica acta; international journal of clinical chemistry 2007;380(1-2):8-12.
2006: Lourdes R Desviat; Belén Pérez; Magdalena Ugarte
Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.
Clinica chimica acta; international journal of clinical chemistry 2006;373(1-2):164-7.
2006: C Pérez-Cerdá; Magdalena Ugarte
[Congenital disorders of glycosylation. Their diagnosis and treatment].
Revista de neurologia 2006;43 Suppl 1():S145-56.
2006: Begoña Merinero; Celia Pérez-Cerdá; Pedro Ruiz-Sala; Isidro Ferrer; María José García; Mercedes Martínez-Pardo; A Belanger-Quintana; J L de la Mota; E Martin-Hernández; C Vianey-Saban; C Bischoff; Niels Gregersen; Magdalena Ugarte
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
Journal of inherited metabolic disease 2006;29(5):685.
2006: Eva Richard; Lucía Monteoliva; Silvia Juarez; Belén Pérez; Lourdes R Desviat; Magdalena Ugarte; Juan Pablo Albar
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.
Journal of proteome research 2006;5(7):1602-10.
2006: Pilar Rodríguez-Pombo; Rosa Navarrete; Begoña Merinero; Paulino Gómez-Puertas; Magdalena Ugarte
Mutational spectrum of maple syrup urine disease in Spain.
Human mutation 2006;27(7):715.
2006: Cristina Aguado; Belén Pérez; Magdalena Ugarte; Lourdes R Desviat
Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.
FEBS letters 2006;580(7):1697-701.
2006: Marta Bermúdez; Nina Frank; Jaime Bernal; Roser Urreizti; Ignacio Briceño; Begoña Merinero; Celia Perez-Cerdá; Magdalena Ugarte; Daniel Grinberg; Susana Balcells; Jan P Kraus
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
Human mutation 2006;27(3):296.
2006: Lourdes R Desviat; Sonia Clavero; Celia Perez-Cerdá; Rosa Navarrete; Magdalena Ugarte; Belen Perez
New splicing mutations in propionic acidemia.
Journal of human genetics 2006;51(11):992-7.
2005: Amaya Bélanger-Quintana; María José García; Margarita Castro; Lourdes R Desviat; Belén Pérez; Blanca Mejía; Magdalena Ugarte; Mercedes Martínez-Pardo
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.
Molecular genetics and metabolism 2005;86 Suppl 1():S61-6.
2005: Belén Pérez; Lourdes R Desviat; Paulino Gómez-Puertas; Aurora Martínez; Raymond C Stevens; Magdalena Ugarte
Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients.
Molecular genetics and metabolism 2005;86 Suppl 1():S11-6.
2005: Celia Perez-Cerda; Judit García-Villoria; Rob Ofman; Pedro Ruiz Sala; Begoña Merinero; Julio Ramos; Maria Teresa García-Silva; Beatriz Beseler; Jaime Dalmau; Ronald J A Wanders; Magdalena Ugarte; Antonia Ribes
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
Pediatric research 2005;58(3):488-91.
2005: Pilar Rodríguez-Pombo; Celia Pérez-Cerdá; Belén Pérez; Lourdes R Desviat; Luis Sánchez-Pulido; Magdalena Ugarte
Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
Biochimica et biophysica acta 2005;1740(3):489-98.
2005: Ignacio Pascual-Castroviejo; Samuel Ignacio Pascual-Pascual; Begoña Merinero; Magdalena Ugarte; Jm Garcia Segura; Juan Viaño; R Velazquez
[Glutaric aciduria type 1 with normal evolution: follow-up of one case until adult age].
Neurología (Barcelona, Spain) 2005;20(4):189-93.
2005: María Angeles Martínez; Ana Rincón; Lourdes R Desviat; Begoña Merinero; Magdalena Ugarte; Belén Pérez
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
Molecular genetics and metabolism 2005;84(4):317-25.
2005: Beatriz Puisac; Eduardo López-Viñas; Susana Moreno; Cecilia Mir; Celia Pérez-Cerdá; Sebastián Menao; Dolores Lluch; Angeles Pié; Paulino Gómez-Puertas; Núria Casals; Magdalena Ugarte; Fausto G Hegardt; Juan Pié
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.
Biophysical chemistry 2005;115(2-3):241-5.
2005: Ignacio Pascual-Castroviejo; Samuel Ignacio Pascual-Pascual; R Velázquez Fragua; Isidro Ferrer; Magdalena Ugarte; Juan Manuel García-Segura
[L-2 hydroxyglutaric aciduria in a patient with Klinefelter syndrome].
Neurología (Barcelona, Spain) 2005;20(2):90-3.
2004: Celia Pérez-Cerdá; Belén Pérez; Begoña Merinero; Lourdes R Desviat; Pilar Rodríguez-Pombo; Magdalena Ugarte
Prenatal diagnosis of propionic acidemia.
Prenatal diagnosis 2004;24(12):962-4.
2004: Heidi Erlandsen; Angel L Pey; Alejandra Gámez; Belén Pérez; Lourdes R Desviat; Cristina Aguado; Richard Koch; Sankar Surendran; Stephen Tyring; Reuben Matalon; Charles R Scriver; Magdalena Ugarte; Aurora Martínez; Raymond C Stevens
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(48):16903-8.
2004: Angel L Pey; Belén Pérez; Lourdes R Desviat; María Angeles Martínez; Cristina Aguado; Heidi Erlandsen; Alejandra Gámez; Raymond C Stevens; Matthías Thórólfsson; Magdalena Ugarte; Aurora Martínez
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
Human mutation 2004;24(5):388-99.
2004: Angel L Pey; Matthías Thórólfsson; Knut Teigen; Magdalena Ugarte; Aurora Martínez
Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase.
Journal of the American Chemical Society 2004;126(42):13670-8.
2004: Lourdes R Desviat; Belén Pérez; Amaya Bèlanger-Quintana; Margarita Castro; Cristina Aguado; Ascensión Sánchez; María José García; Mercedes Martínez-Pardo; Magdalena Ugarte
Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.
Molecular genetics and metabolism 2004;83(1-2):157-62.
2004: Lourdes R Desviat; Belén Pérez; Celia Pérez-Cerdá; Pilar Rodríguez-Pombo; Sonia Clavero; Magdalena Ugarte
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Molecular genetics and metabolism 2004;83(1-2):28-37.
2004: Sonia Clavero; Belén Pérez; Ana Rincón; Magdalena Ugarte; Lourdes R Desviat
Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.
Human genetics 2004;115(3):239-47.
2004: Thomas Lücke; Celia Pérez-Cerdá; Matthias Baumgartner; Brian Fowler; Stefanie Sander; Michael Sasse; Sabine Scholl; Magdalena Ugarte; Anibh M Das
Propionic acidemia: unusual course with late onset and fatal outcome.
Metabolism: clinical and experimental 2004;53(6):809-10.
2003: Lourdes R Desviat; Celia Pérez-Cerdá; Belén Pérez; Jorge Esparza-Gordillo; Pilar Rodríguez-Pombo; Miguel A Peñalva; Santiago Rodríguez de Córdoba; Magdalena Ugarte
Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.
Molecular genetics and metabolism 2003;80(3):315-20.
2003: Amaya Bélanger-Quintana; Mercedes Martínez-Pardo; María José García; Bendicht Wermuth; Julián Torres; Esperanza Pallarés; Magdalena Ugarte
Hyperammonaemia as a cause of psychosis in an adolescent.
European journal of pediatrics 2003;162(11):773-5.
2003: Celia Pérez-Cerdá; Sonia Clavero; Belén Pérez; Pilar Rodríguez-Pombo; Lourdes R Desviat; Magdalena Ugarte
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
Biochimica et biophysica acta 2003;1638(1):43-9.
2003: Orna Tighe; Donncha Dunican; Charles O'Neill; Giorgio Bertorelle; Diane Beattie; Colin Graham; Johannes Zschocke; Francesco Cali; Valentino Romano; Eva Hrabincova; Libor Kozak; Marina Nechyporenko; Ludmilla Livshits; Per Guldberg; Monika Jurkowska; Cezary Zekanowski; Belen Perez; Lourdes R Desviat; Magdalena Ugarte; Vaidutis Kucinskas; Per Knappskog; Eileen P Treacy; Eileen Naughten; Linda Tyfield; Susan Byck; Charles R Scriver; Philip D Mayne; David T Croke
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
Human mutation 2003;21(4):387-93.
2003: Angel L Pey; Lourdes R Desviat; Alejandra Gámez; Magdalena Ugarte; Belén Pérez
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
Human mutation 2003;21(4):370-8.
2003: Lourdes R Desviat; Belén Pérez; Magdalena Ugarte
Investigation of folding and degradation of in vitro synthesized mutant proteins in the cytosol.
Methods in molecular biology (Clifton, N.J.) 2003;232():257-63.
2003: Belén Pérez; Lourdes R Desviat; Magdalena Ugarte
Analysis of defective subunit interactions using the two-hybrid system.
Methods in molecular biology (Clifton, N.J.) 2003;232():245-56.
2003: Belén Pérez; Lourdes R Desviat; Pilar Rodríguez-Pombo; Sonia Clavero; Rosa Navarrete; Celia Perez-Cerdá; Magdalena Ugarte
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Molecular genetics and metabolism 2003;78(1):59-67.
2002: Sonia Clavero; María Angeles Martínez; Belén Pérez; Celia Pérez-Cerdá; Magdalena Ugarte; Lourdes R Desviat
Functional characterization of PCCA mutations causing propionic acidemia.
Biochimica et biophysica acta 2002;1588(2):119-25.
2002: Barry Wolf; K Jensen; Gülden Hüner; Mübeccel Demirkol; Tolunay Baykal; Priscille Divry; Marie-Odile Rolland; Celia Perez-Cerdá; Magdalena Ugarte; Rachel Straussberg; Lina Basel-Vanagaite; E Regula Baumgartner; Terttu Suormala; Sabine Scholl; Anibh M Das; S Schweitzer; Ewa Pronicka; Jolanta Sykut-Cegielska
Seventeen novel mutations that cause profound biotinidase deficiency.
Molecular genetics and metabolism 2002;77(1-2):108-11.
2002: M Castro; Celia Pérez-Cerdá; Begoña Merinero; María José García; J Bernar; A Gil Nagel; J Torres; M Bermúdez; P Garavito; S Marie; F Vincent; G Van den Berghe; Magdalena Ugarte
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
Neuropediatrics 2002;33(4):186-9.
2002: P Rodriguez-Pombo; Celia Pérez-Cerdá; Lourdes R Desviat; Belén Pérez; Magdalena Ugarte; Pilar Rodríguez-Pombo
Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.
Molecular genetics and metabolism 2002;75(3):276-9.
2002: Toshiyuki Fukao; Haruki Nakamura; Kozue Nakamura; Celia Perez-Cerda; Antonio Baldellou; Carlos R Barrionuevo; Francisco Girona Castello; Yoshinori Kohno; Magdalena Ugarte; Naomi Kondo
Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.
Molecular genetics and metabolism 2002;75(3):235-43.
2001: S Muro; Belén Pérez; Lourdes R Desviat; Pilar Rodríguez-Pombo; Celia Pérez-Cerdá; Sonia Clavero; Magdalena Ugarte
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
Molecular genetics and metabolism 2001;74(4):476-83.
2001: E Campeau; Lourdes R Desviat; Daniel Leclerc; X Wu; Belén Pérez; Magdalena Ugarte; Roy A Gravel
Structure of the PCCA gene and distribution of mutations causing propionic acidemia.
Molecular genetics and metabolism 2001;74(1-2):238-47.
2001: Lourdes R Desviat; Belén Pérez; E Gutierrez; Ascensión Sánchez; B Barrios; Magdalena Ugarte
Molecular basis of phenylketonuria in Cuba.
Human mutation 2001;18(3):252.
2001: A Martínez-Bermejo; JM Arcas; M C Roche; V López-Martín; Aránzazu Royo; Begoña Merinero; María José García; Adrián Tendero; Magdalena Ugarte
[Bilateral hypodensity of the basal ganglia. Clinico-evolutionary correlation in children].
Revista de neurologia 2001;33(2):101-11.
2001: M E Gallardo; Lourdes R Desviat; J M Rodríguez; Jorge Esparza-Gordillo; Celia Pérez-Cerdá; Belén Pérez; Pilar Rodríguez-Pombo; O Criado; Raul Sanz; D H Morton; K M Gibson; T P Le; Antonia Ribes; Santiago Rodríguez de Córdoba; Magdalena Ugarte; Miguel A Peñalva
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
American journal of human genetics 2001;68(2):334-46.
2001: Kozue Nakamura; Toshiyuki Fukao; Celia Perez-Cerda; C Luque; XQ Song; Y Naiki; Yoshinori Kohno; Magdalena Ugarte; Naomi Kondo
A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
Molecular genetics and metabolism 2001;72(2):115-21.
2000: Alejandra Gámez; Belén Pérez; Magdalena Ugarte; Lourdes R Desviat
Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein.
The Journal of biological chemistry 2000;275(38):29737-42.
2000: Christiane Busquets; Maria Josep Coll; Begoña Merinero; Magdalena Ugarte; M A Ruiz; A Martinez Bermejo; Antonia Ribes
Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis.
Prenatal diagnosis 2000;20(9):761-4.
2000: Christiane Busquets; Begoña Merinero; Ernst Christensen; J L Gelpí; Jaume Campistol; Manuel Pineda; E Fernández-Alvarez; J M Prats; A Sans; Rosa Arteaga; Mercè Martí; J Campos; Mercedes Martínez-Pardo; A Martínez-Bermejo; M L Ruiz-Falcó; J Vaquerizo; M Orozco; Magdalena Ugarte; Maria Josep Coll; Antonia Ribes
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Pediatric research 2000;48(3):315-22.
2000: S Muro; Belén Pérez; Pilar Rodríguez-Pombo; Lourdes R Desviat; Celia Pérez-Cerdá; Magdalena Ugarte
Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.
Journal of inherited metabolic disease 2000;23(4):300-4.
2000: Celia Pérez-Cerdá; Begoña Merinero; Pilar Rodríguez-Pombo; Belén Pérez; Lourdes R Desviat; S Muro; Eva Richard; María José García; J Gangoiti; Pedro Ruiz-Sala; P Sanz; Paz Briones; Antonia Ribes; Mercedes Martínez-Pardo; Jaume Campistol; M Pérez; R Lama; M L Murga; T Lema-Garrett; Alfonso Verdú; Magdalena Ugarte
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
European journal of human genetics : EJHG 2000;8(3):187-94.
2000: C Zekanowsk; Belen Perez; Lourdes R Desviat; W Wiszniewski; Magdalena Ugarte
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
Acta biochimica Polonica 2000;47(2):365-9.
1999: Begoña Merinero; Samuel Ignacio Pascual-Pascual; Celia Pérez-Cerdá; J Gangoiti; M Castro; M J Garcia; Ignacio Pascual-Castroviejo; C Vianey-Saban; B Andresen; Niels Gregersen; Magdalena Ugarte
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 1999;22(7):802-10.
1999: S Muro; Celia Perez-Cerdá; P Roddríguez-Pombo; Belén Pérez; Paz Briones; Antonia Ribes; Magdalena Ugarte
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
Journal of medical genetics 1999;36(5):412-4.
1999: Lourdes R Desviat; Belén Pérez; Alejandra Gámez; Ascensión Sánchez; María José García; Mercedes Martínez-Pardo; C Marchante; D Bóveda; Antonio Baldellou; J Arena; P Sanjurjo; A Fernández; M L Cabello; Magdalena Ugarte
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
European journal of human genetics : EJHG 1999;7(3):386-92.
1999: Eva Richard; Lourdes R Desviat; Belén Pérez; Celia Pérez-Cerdá; Magdalena Ugarte
Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.
Biochimica et biophysica acta 1999;1453(3):351-8.
1999: Magdalena Ugarte; Celia Pérez-Cerdá; Pilar Rodríguez-Pombo; Lourdes R Desviat; Belén Pérez; Eva Richard; S Muro; E Campeau; T Ohura; Roy A Gravel
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Human mutation 1999;14(4):275-82.
1999: S Muro; Pilar Rodríguez-Pombo; Belén Pérez; Celia Pérez-Cerdá; Lourdes R Desviat; Wolfgang Sperl; Daniela Skladal; Jörn Oliver Sass; Magdalena Ugarte
Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.
Human mutation 1999;14(1):89-90.
1999: Belén Pérez; Lourdes R Desviat; Marisel De Lucca; Verónica Cornejo; Erna Raimann; Magdalena Ugarte
Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.
Human mutation 1999;13(6):503.
1998: Begoña Merinero; Celia Pérez-Cerdá; M J Garcia; Bernadette Chadefaux-Vekemans; Pierre Kamoun; Carole Tonetti; Jacqueline Zittoun; C Jakobs; Magdalena Ugarte
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
Prenatal diagnosis 1998;18(9):947-52.
1998: Pilar Rodríguez-Pombo; Janet Hoenicka; S Muro; Belén Pérez; Celia Pérez-Cerdá; Eva Richard; Lourdes R Desviat; Magdalena Ugarte
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
American journal of human genetics 1998;63(2):360-9.
1998: Celia Pérez-Cerdá; Begoña Merinero; Mercè Martí; JC Cabrera; L Peña; María José García; J Gangoiti; P Sanz; Pilar Rodríguez-Pombo; Janet Hoenicka; Eva Richard; S Muro; Magdalena Ugarte
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
European journal of pediatrics 1998;157(1):50-2.
1998: Janet Hoenicka; Pilar Rodríguez-Pombo; Celia Pérez-Cerdá; S Muro; Eva Richard; Magdalena Ugarte
New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.
Human mutation 1998;Suppl 1():S234-6.
1998: Cesar Casale; Núria Casals; Juan Pié; Nuria Zapater; Celia Pérez-Cerdá; Begoña Merinero; Mercedes Martínez-Pardo; J J García-Peñas; J M García-Gonzalez; R Lama; B T Poll-The; Jan A M Smeitink; Ronald J A Wanders; Magdalena Ugarte; Fausto G Hegardt
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.
Archives of biochemistry and biophysics 1998;349(1):129-37.
1997: Eva Richard; Lourdes R Desviat; Belén Pérez; Celia Pérez-Cerdá; Magdalena Ugarte
Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.
Human genetics 1997;101(1):93-6.
1997: Francesco Calì; Irma Dianzani; Lourdes R Desviat; Belen Perez; Magdalena Ugarte; Meral Ozguc; Volkan Seyrantepe; Y Shiloh; Sergio Giannattasio; C Carducci; Paolo Bosco; G De Leo; A Piazza; Valentino Romano
The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.
Human genetics 1997;100(3-4):350-5.
1997: Lourdes R Desviat; Belén Pérez; María José García; Mercedes Martínez-Pardo; Antonio Baldellou; J Arena; P Sanjurjo; Jaume Campistol; María Luz Couce; A Fernández; J Cardesa; Magdalena Ugarte
Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population.
European journal of human genetics : EJHG 1997;5(4):196-202.
1997: XQ Song; Toshiyuki Fukao; Grant A Mitchell; S Kassovska-Bratinova; Magdalena Ugarte; Ronald J A Wanders; K Hirayama; H Shintaku; P Churchill; H Watanabe; Tadao Orii; Naomi Kondo
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency.
Biochimica et biophysica acta 1997;1360(2):151-6.
1997: Lourdes R Desviat; Belén Pérez; Magdalena Ugarte
Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34.
Human mutation 1997;9(1):66-8.
1997: Belén Pérez; Lourdes R Desviat; Magdalena Ugarte
Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.
American journal of human genetics 1997;60(1):95-102.
1996: S Kassovska-Bratinova; Toshiyuki Fukao; XQ Song; A M Duncan; H S Chen; MF Robert; Celia Pérez-Cerdá; Magdalena Ugarte; C Chartrand; S Vobecky; Naomi Kondo; Grant A Mitchell
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.
American journal of human genetics 1996;59(3):519-28.
1996: Belén Pérez; Lourdes R Desviat; Marisel De Lucca; B Schmidt; N Loghin-Grosso; Roberto Giugliani; Ricardo F Pires; Magdalena Ugarte
Mutation analysis of phenylketonuria in south Brazil.
Human mutation 1996;8(3):262-4.
1996: Lourdes R Desviat; Belén Pérez; Magdalena Ugarte
Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.
Journal of inherited metabolic disease 1996;19(2):227-30.
1996: Begoña Merinero; Celia Pérez-Cerdá; M J Garcia; J Gangoiti; L M Font; M T Garcia Silva; C Vianey-Saban; M Duran; Magdalena Ugarte
Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course.
Journal of inherited metabolic disease 1996;19(2):173-6.
1995: Lourdes R Desviat; Belén Pérez; Marisel De Lucca; V Cornejo; B Schmidt; Magdalena Ugarte
Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.
American journal of human genetics 1995;57(2):337-42.
1995: Belén Pérez; Lourdes R Desviat; Magdalena Ugarte
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia.
Human mutation 1995;5(2):188-90.
1995: Humberto Nicolini; C Cruz; Beatriz Camarena; M Fernanda Merino; G Bilbao; M Vela; Antonio Velazquez; Belén Pérez; Lourdes R Desviat; Magdalena Ugarte
Molecular analysis of the phenylalanine hydroxylase gene in Mexican phenylketonuric patients.
Archives of medical research 1995;26(1):53-7.
1995: Celia Pérez-Cerdá; Begoña Merinero; P Sanz; M Castro; J Gangoiti; María José García; M Díaz; E Medina; Magdalena Ugarte
Liver transplantation in nine Spanish patients with tyrosinaemia type I.
Journal of inherited metabolic disease 1995;18(2):119-22.
1994: Belén Pérez; Lourdes R Desviat; Marisel De Lucca; Magdalena Ugarte
Spectrum and origin of phenylketonuria mutations in Spain.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1994;407():34-6.
1994: Belén Pérez; Lourdes R Desviat; María José García; Magdalena Ugarte
Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.
Journal of inherited metabolic disease 1994;17(3):377-8.
1994: Mercedes Martínez-Pardo; A R Colmenares; María José García; Belén Pérez; Lourdes R Desviat; Magdalena Ugarte
Phenotype distribution in the Spanish phenylketonuria population and related genotypes.
Journal of inherited metabolic disease 1994;17(3):366-8.
1994: Celia Pérez-Cerdá; Pilar Rodríguez-Pombo; Magdalena Ugarte
Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.
Journal of inherited metabolic disease 1994;17(6):661-3.
1993: Lourdes R Desviat; Belén Pérez; Magdalena Ugarte
Phenylketonuria in Spain: RFLP haplotypes and linked mutations.
Human genetics 1993;92(3):254-8.
1993: Belén Pérez; Lourdes R Desviat; M Díe; V Cornejo; N A Chamoles; Humberto Nicolini; Magdalena Ugarte
Presence of the Mediterranean PKU mutation IVS10 in Latin America.
Human molecular genetics 1993;2(8):1289-90.
1993: Celia Pérez-Cerdá; Begoña Merinero; A Jiménez; María José García; P Sanz; L Ijlst; R J Wanders; Magdalena Ugarte
First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk.
Prenatal diagnosis 1993;13(6):529-33.
1992: Lourdes R Desviat; Belén Pérez; Magdalena Ugarte
A new PKU mutation associated with haplotype 12.
Human molecular genetics 1992;1(9):765-6.
1992: Belén Pérez; Lourdes R Desviat; M Die; Magdalena Ugarte
Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.
Human genetics 1992;89(3):341-2.
1992: Pilar Rodríguez-Pombo; L Sweetman; Magdalena Ugarte
Primary cultures of astrocytes from rat as a model for biotin deficiency in nervous tissue.
Molecular and chemical neuropathology / sponsored by the International Society for Neurochemistry and the World Federation of Neurology and research groups on neurochemistry and cerebrospinal fluid 1992;16(1-2):33-44.
1992: Celia Pérez-Cerdá; Begoña Merinero; P Sanz; A Jiménez; C Hernández; María José García; Magdalena Ugarte
A new case of succinyl-CoA: acetoacetate transferase deficiency.
Journal of inherited metabolic disease 1992;15(3):371-3.
1992: Begoña Merinero; C Pérez-Cerda; Magdalena Ugarte
Investigation of enzyme defects in children with lactic acidosis.
Journal of inherited metabolic disease 1992;15(5):696-706.
1990: G Morales; Jose M Requena; A Jimenez-Ruiz; M C Lopez; Magdalena Ugarte; C Alonso
Sequence and expression of the Drosophila phenylalanine hydroxylase mRNA.
Gene 1990;93(2):213-9.
1989: M J Garcia-Muñoz; J Belloque; Begoña Merinero; Celia Pérez-Cerdá; P Sanz; Magdalena Ugarte
Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis.
Prenatal diagnosis 1989;9(7):473-6.
1989: Celia Pérez-Cerdá; Begoña Merinero; P Sanz; A Jiménez; María José García; A Urbón; J Díaz-Recasens; Carmen Ramos; C Ayuso; Magdalena Ugarte
Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.
Journal of inherited metabolic disease 1989;12 Suppl 2():274-6.
1984: J A Del Valle; M J Garcia; Begoña Merinero; Celia Pérez-Cerdá; F Roman; A Jimenez; Magdalena Ugarte; Mercedes Martínez-Pardo; C Ludeña; C Camarero
A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.
Journal of inherited metabolic disease 1984;7(2):62-4.
1982: Pablo Sanjurjo; C Jaquotot; Alfredo Vallo; R Uriarte; J M Prats; Magdalena Ugarte; Juan Rodríguez Soriano
[Combined exchange transfusion and peritoneal dialysis treatment in a neonatal case of methylmalonic acidemia with severe hyperammonemia].
Anales españoles de pediatría 1982;17(4):317-20.
1982: J A del Valle; A Urbón; María José García; P Cuadrado; Magdalena Ugarte
[Neonatal hyperammonemia due to ornithine transcarbamylase deficiency (author's transl)].
Anales españoles de pediatría 1982;16(5):416-20.
1982: J A del Valle; Begoña Merinero; Celia Pérez-Cerdá; Magdalena Ugarte
[Human fibroblast bank for studying amino acid disorders and organic acidemias].
Revista española de fisiología 1982;38 Suppl():207-10.
1982: J A DelValle; Begoña Merinero; A Jiménez; María José García; Magdalena Ugarte; F Omeñaca; G Neustadt; José Quero
Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
Journal of inherited metabolic disease 1982;5(2):121-4.
1981: Begoña Merinero; J A DelValle; A Jiménez; M J Garcia; Magdalena Ugarte; R Solaguren; O López; I Condado
Late onset type of propionic acidaemia: case report and biochemical studies.
Journal of inherited metabolic disease 1981;4(2):71-2.
1980: J A Del Valle; Begoña Merinero; M J Garciá; Magdalena Ugarte; F Omeñaca; G Neustadt
Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.
Journal of inherited metabolic disease 1980;3(3):93.