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51

Structure of the PCCA Gene and Distribution of Mutations Causing Propionic Acidemia

Eric Campeau, Lourdes R. Desviat, Daniel Leclerc, Xuchu Wu, Belén Pérez, Magdalena Ugarte, Roy A. Gravel

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 215 KB

english, 2001

52

Effect of PCCB Gene Mutations on the Heteromeric and Homomeric Assembly of Propionyl-CoA Carboxylase

S. Muro, B. Pérez, L.R. Desviat, P. Rodrı́guez-Pombo, C. Pérez-Cerdá, S. Clavero, M. Ugarte

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 106 KB

english, 2001

53

Transfection Screening for Defects in the PCCA and PCCB Genes Encoding Propionyl-CoA Carboxylase Subunits

P. Rodriguez-Pombo, C. Pérez-Cerdá, L.R. Desviat, B. Pérez, M. Ugarte, P. Rodrı&amp, #x0301, guez-Pombo

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 162 KB

english, 2002

54

Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase

Pilar Rodríguez-Pombo, Celia Pérez-Cerdá, Belén Pérez, Lourdes R. Desviat, Luis Sánchez-Pulido, Magdalena Ugarte

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2005

Language:

english

File:

PDF, 658 KB

english, 2005

55

Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis

Lourdes R. Desviat, Belén Pérez, Magdalena Ugarte

Journal:

Clinica Chimica Acta

Year:

2006

Language:

english

File:

PDF, 340 KB

english, 2006

56

BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor

Cristina Aguado, Belen Pérez, M. José García, Amaya Bélanger-Quintana, Mercedes Martínez-Pardo, Magdalena Ugarte, Lourdes R. Desviat

Journal:

Clinica Chimica Acta

Year:

2007

Language:

english

File:

PDF, 148 KB

english, 2007

57

Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient

Dimitra Lianou, Lorena Gallego, Helen Michelakakis, Celia Pérez-Cerdá, Belén Pérez, Stavroula Ginis, Cornelis Jakobs, Magdalena Ugarte, Lourdes R. Desviat

Journal:

Clinica Chimica Acta

Year:

2010

Language:

english

File:

PDF, 118 KB

english, 2010

58

Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells

Cristina Aguado, Belén Pérez, Magdalena Ugarte, Lourdes R. Desviat

Journal:

Year:

2006

Language:

english

File:

PDF, 104 KB

english, 2006

59

Propionic acidemia: mutation update and functional and structural effects of the variant alleles

L.R. Desviat, B. Pérez, C. Pérez-Cerdá, P. Rodríguez-Pombo, S. Clavero, M. Ugarte

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 1.15 MB

english, 2004

60

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype

Lourdes R. Desviat, Belén Pérez, Amaya Bèlanger-Quintana, Margarita Castro, Cristina Aguado, Ascensión Sánchez, Maria José García, Mercedes Martínez-Pardo, Magdalena Ugarte

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 289 KB

english, 2004

61

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants

Maria Angeles Martínez, Ana Rincón, Lourdes R. Desviat, Begoña Merinero, Magdalena Ugarte, Belén Pérez

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 830 KB

english, 2005

62

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin

Amaya Bélanger-Quintana, María José García, Margarita Castro, Lourdes R. Desviat, Belén Pérez, Blanca Mejía, Magdalena Ugarte, Mercedes Martínez-Pardo

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 231 KB

english, 2005

63

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients

Belén Pérez, Lourdes R. Desviat, Paulino Gómez-Puertas, Aurora Martínez, Rymond C. Stevens, Magdalena Ugarte

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 375 KB

english, 2005

64

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia

Lourdes R. Desviat, Rocío Sanchez-Alcudia, Belén Pérez, Celia Pérez-Cerdá, Rosa Navarrete, Raymon Vijzelaar, Magdalena Ugarte

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 537 KB

english, 2009

65

Overexpression of adapted U1snRNA in patients' cells to correct a 5′ splice site mutation in propionic acidemia

Rocío Sánchez-Alcudia, Belén Pérez, Celia Pérez-Cerdá, M. Ugarte, Lourdes R. Desviat

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 400 KB

english, 2011

66

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

Christina Lam, Lourdes R. Desviat, Celia Perez-Cerdá, Magdalena Ugarte, Bruce A. Barshop, Stephen Cederbaum

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 140 KB

english, 2011

67

Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases

Belén Pérez, Julián Nevado, Pablo Lapunzina, Lorena Gallego, Celia Pérez-Cerdá, Begoña Merinero, Magdalena Ugarte, Lourdes R. Desviat

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 322 KB

english, 2012

68

Functional characterization of PCCA mutations causing propionic acidemia

Sonia Clavero, Mª Angeles Martı́nez, Belén Pérez, Celia Pérez-Cerdá, Magdalena Ugarte, Lourdes R Desviat

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2002

Language:

english

File:

PDF, 358 KB

english, 2002

69

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts

C. Pérez-Cerdá, S. Clavero, B. Pérez, P. Rodrı́guez-Pombo, L.R. Desviat, M. Ugarte

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2003

Language:

english

File:

PDF, 441 KB

english, 2003

70

Genetic heterogeneity in propionic acidemia patients with α-subunit defects. Identification of five novel mutations, one of them causing instability of the protein

Eva Richard, Lourdes R. Desviat, Belén Pérez, Celia Pérez-Cerdá, Magdalena Ugarte

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1999

Language:

english

File:

PDF, 238 KB

english, 1999

71

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

B Pérez, L.R Desviat, P Rodrı́guez-Pombo, S Clavero, R Navarrete, C Perez-Cerdá, M Ugarte

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 267 KB

english, 2003

72

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria

L.R Desviat, C Pérez-Cerdá, B Pérez, J Esparza-Gordillo, P Rodrı́guez-Pombo, M.A Peñalva, S Rodrı́guez de Córdoba, M Ugarte

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 231 KB

english, 2003

73

Aspectos éticos de la competencia del paciente con trastorno mental grave

M. Desviat Muñoz, A. Moreno Pérez

Journal:

FMC - Formación Médica Continuada en Atención Primaria

Year:

2006

Language:

spanish

File:

PDF, 78 KB

spanish, 2006

74

Human Propionyl-CoA Carboxylase β Subunit Gene: Exon-Intron Definition and Mutation Spectrum in Spanish and Latin American Propionic Acidemia Patients

Pilar Rodríguez-Pombo, Janet Hoenicka, Silvia Muro, Belén Pérez, Celia Pérez-Cerdá, Eva Richard, Lourdes R. Desviat, Magdalena Ugarte

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 257 KB

english, 1998

75

The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

M.Esther Gallardo, Lourdes R. Desviat, José M. Rodríguez, Jorge Esparza-Gordillo, Celia Pérez-Cerdá, Belén Pérez, Pilar Rodríguez-Pombo, Olga Criado, Raul Sanz, D.Holmes Morton, K.Michael Gibson, Thuy

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.13 MB

english, 2001

76

Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic Variations Causing Aberrantly Spliced Messenger RNA

A. Rincón, C. Aguado, L.R. Desviat, R. Sánchez-Alcudia, M. Ugarte, B. Pérez

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.28 MB

english, 2007

77

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM 1 K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

Oyarzabal, Alfonso, Martínez-Pardo, Mercedes, Merinero, Begoña, Navarrete, Rosa, Desviat, Lourdes R, Ugarte, Magdalena, Rodríguez-Pombo, Pilar

Journal:

Year:

2013

Language:

english

File:

PDF, 395 KB

english, 2013

78

Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects

Richard, Eva, Desviat, Lourdes R., Ugarte, Magdalena, Pérez, Belén

Journal:

Journal of Cellular Biochemistry

Year:

2013

Language:

english

File:

PDF, 248 KB

english, 2013

79

Tratamiento de la hiperfenilalaninemia por déficit de fenilalanina hidroxilasa con tetrahidrobiopterina. ¿Cuándo y cómo?

A. Baldellou Vázquez, M.ªI. Salazar García-Blanco, M.ªP. Ruiz-Echarri Zalaya, C. Campos Calleja, L. Ruiz Desviat, M. Ugarte Pérez

Journal:

Anales de Pediatría

Year:

2006

File:

PDF, 107 KB

2006

80

Análisis de las frecuencias de todas las combinaciones genotípicas de 4 polimorfismos de genes implicados en el ciclo del folato en la población española

María Luisa Martínez-Frías, Eva Bermejo, Belén Pérez, Lourdes R. Desviat, Margarita Castro, Fátima Leal, Elena Mansilla, María Luisa Martínez-Fernández, Elvira Rodríguez-Pinilla, Laura Rodríguez, Magd

Journal:

Medicina Clínica

Year:

2008

File:

PDF, 97 KB

2008

81

Identification of the first deletion–insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element

Amiñoso, Cinthia, Vallespin, Elena, Fernández, Luís, Arrabal, Luisa F., Desviat, Lourdes R., Pérez, Belen, Santos, Fernando, Solera, Jesús

Journal:

Year:

2013

Language:

english

File:

PDF, 374 KB

english, 2013

82

Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease

Pérez, B., Rodríguez-Pombo, P., Ugarte, M., Desviat, L.R.

Journal:

Molecular Syndromology

Year:

2012

Language:

english

File:

PDF, 346 KB

english, 2012

83

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

Trujillano, Daniel, Perez, Belén, González, Justo, Tornador, Cristian, Navarrete, Rosa, Escaramis, Georgia, Ossowski, Stephan, Armengol, Lluís, Cornejo, Verónica, Desviat, Lourdes R, Ugarte, Magdalena

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 600 KB

english, 2014

84

Antisense Mediated Splicing Modulation For Inherited Metabolic Diseases: Challenges for Delivery

Pérez, Belen, Vilageliu, Lluisa, Grinberg, Daniel, Desviat, Lourdes R.

Journal:

Nucleic Acid Therapeutics (Formerly Oligonucleotides)

Year:

2014

Language:

english

File:

PDF, 293 KB

english, 2014

85

Diffusion MRI in the Study of Hepatic Lesions

Vallejo Desviat, P., Martínez De Vega, V., Recio Rodríguez, M., Jiménez De La Peña, M., Carrascoso Arranz, J.

Journal:

Cirugía Española (English Edition)

Year:

2013

Language:

english

File:

PDF, 1.27 MB

english, 2013

86

Announcement

Peraza Casajús, J.M., Bodega Quiroga, I., García-Oria, M., Rosado Dawid, Natalia Z., Vallejo Desviat, P.

Journal:

Brain Research Bulletin

Year:

1978

File:

PDF, 28 KB

1978

87

Acute diverticulitis in a patient with intestinal malrotation

Peraza Casajús, J.M., Bodega Quiroga, I., García-Oria, M., Rosado Dawid, Natalia Z., Vallejo Desviat, P.

Journal:

Revista da Associação Médica Brasileira (English Edition)

Year:

2012

Language:

english

File:

PDF, 588 KB

english, 2012

88

Diverticulis aguda en una paciente con malrotación intestinal

Peraza Casajús, J.M., Bodega Quiroga, I., García-Oria, M., Rosado Dawid, Natalia Z., Vallejo Desviat, P.

Journal:

Revista da Associação Médica Brasileira

Year:

2012

File:

PDF, 967 KB

2012

89

Difusión en resonancia magnética en el estudio de lesiones hepáticas

Vallejo Desviat, Pilar, Martínez De Vega, Vicente, Recio Rodríguez, Manuel, Jiménez De La Peña, Mar, Carrascoso Arranz, Javier

Journal:

Cirugía Española

Year:

2013

File:

PDF, 935 KB

2013

90

Functional characterization of the novel intronic nucleotide change c.288+9C>T within theBCKDHAgene: understanding a variant presentation of maple syrup urine disease

Fernández-Guerra, Paula, Navarrete, Rosa, Weisiger, Kara, Desviat, Lourdes R., Packman, Seymour, Ugarte, Magdalena, Rodríguez-Pombo, Pilar

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 426 KB

english, 2010

91

Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG

Yuste-Checa, P., Medrano, C., Gámez, A., Desviat, L.R., Matthijs, G., Ugarte, M., Pérez-Cerdá, C., Pérez, B.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 757 KB

english, 2015

92

Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts

Gallego-Villar, Lorena, Pérez, Belén, Ugarte, Magdalena, Desviat, Lourdes R., Richard, Eva

Journal:

Biochemical and Biophysical Research Communications

Year:

2014

Language:

english

File:

PDF, 788 KB

english, 2014

93

Quantitative Analysis of Mitochondrial Protein Expression in Methylmalonic Acidemia by Two-Dimensional Difference Gel Electrophoresis

Richard, Eva, Monteoliva, Lucia, Juarez, Silvia, Pérez, Belén, Desviat, Lourdes R., Ugarte, Magdalena, Albar, Juan Pablo

Journal:

Journal of Proteome Research

Year:

2006

Language:

english

File:

PDF, 430 KB

english, 2006

94

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I

Pérez-Carro, R., Sánchez-Alcudia, R., Pérez, B., Navarrete, R., Pérez-Cerdá, C., Ugarte, M., Desviat, L.R.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 641 KB

english, 2014

95

Thirteen Years Experience with Selective Screening for Disorders in Purine and Pyrimidine Metabolism

Castro, M., Carrillo, R., García, F., Sanz, P., Ferrer, I., Ruiz-Sala, P., Vega, A. I., Ruíz Desviat, L., Pérez, B., Pérez-Cerdá, C., Merinero, B., Ugarte, M.

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2014

Language:

english

File:

PDF, 260 KB

english, 2014

96

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies

Brasil, S., Richard, E., Jorge-Finnigan, A., Leal, F., Merinero, B., Banerjee, R., Desviat, L.R., Ugarte, M., Pérez, B.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 742 KB

english, 2015

97

A Sensitive Assay System To Test Antisense Oligonucleotides for Splice Suppression Therapy in the Mouse Liver

Gallego-Villar, Lorena, Viecelli, Hiu Man, Pérez, Belén, Harding, Cary O, Ugarte, Magdalena, Thöny, Beat, Desviat, Lourdes R

Journal:

Molecular Therapy — Nucleic Acids

Year:

2014

Language:

english

File:

PDF, 1.64 MB

english, 2014

98

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

Jorge-Finnigan, A., Brasil, S., Underhaug, J., Ruiz-Sala, P., Merinero, B., Banerjee, R., Desviat, L. R., Ugarte, M., Martinez, A., Perez, B.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 653 KB

english, 2013

99

From The Cover: Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

Erlandsen, H., Pey, A. L., Gamez, A., Perez, B., Desviat, L. R., Aguado, C., Koch, R., Surendran, S., Tyring, S., Matalon, R., Scriver, C. R., Ugarte, M., Martinez, A., Stevens, R. C.

Journal:

Proceedings of the National Academy of Sciences

Year:

2004

Language:

english

File:

PDF, 429 KB

english, 2004

100

A new PKU mutation associated with haplotype 12

Desviat, L. R., Perez, B., Ugarte, M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 333 KB

english, 1992

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