Desviat, L R: search on Z-Library

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1

«Precariado» y control social: asistencialismo y exclusión en el ámbito de la salud mental

Desviat, Manuel

Journal:

Cuadernos de Trabajo Social

Year:

2017

File:

PDF, 76 KB

2017

2

Panorama actual de las políticas de bienestar y la reforma psiquiátrica en España

Desviat, Manuel

Journal:

Estudos de Psicologia (Natal)

Year:

2011

File:

PDF, 754 KB

2011

3

Empowerment and recovery in the mental health field in Brazil: Socio-historical context, cross-national aspects, and critical considerations

Vasconcelos, Eduardo Mourão, Desviat, Manuel

Journal:

American Journal of Psychiatric Rehabilitation

Year:

2017

Language:

english

File:

PDF, 542 KB

english, 2017

4

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

Pérez-Cerdá, C, Merinero, B, Rodríguez-Pombo, P, Pérez, B, Desviat, L R, Muro, S, Richard, E, García, M J, Gangoiti, J, Sala, P Ruiz

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 197 KB

english, 2000

5

Molecular epidemiology and genotype–phenotype correlation in phenylketonuria patients from South Spain

Bueno, María A, González-Lamuño, Domingo, Delgado-Pecellín, Carmen, Aldámiz-Echevarría, Luís, Pérez, Belén, Desviat, Lourdes R, Couce, María L

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 264 KB

english, 2013

6

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Matos, Liliana, Canals, Isaac, Dridi, Larbi, Choi, Yoo, Prata, Maria, Jordan, Peter, Desviat, Lourdes R, Pérez, Belén, Pshezhetsky, Alexey V, Grinberg, Daniel, Alves, Sandra, Vilageliu, Lluïsa

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 1.17 MB

english, 2014

7

Reforma Psiquiátrica no Rio de Janeiro: situação atual e perspectivas futuras

Fagundes Júnior, Hugo Marques, Desviat, Manuel, Silva, Paulo Roberto Fagundes da

Journal:

Ciência & Saúde Coletiva

Year:

2016

Language:

english

File:

PDF, 95 KB

english, 2016

8

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

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

Journal:

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

9

The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-l-cysteine

Glyn B. Steventon, Stephen C. Mitchell, Belen Pérez, Lourdes R. Desviat, Magdalena Ugarte

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 264 KB

english, 2009

10

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

Couce, M.L., Bóveda, M.D., Fernández-Marmiesse, A., Mirás, A., Pérez, B., Desviat, L.R., Fraga, J.M.

Journal:

Year:

2013

Language:

english

File:

PDF, 176 KB

english, 2013

11

Evaluation of social disablement, psychiatric symptoms and autonomy in long-stay psychiatric patients

Abelha, Lúcia, Muñoz, Manuel Desviat, Gonçalves, Sylvia, Fagundes, Paulo, Barbosa, Denise Rebouças, Legay, Letícia Fortes, Lovisi, Giovanni

Journal:

Revista de Psiquiatria Clínica

Year:

2006

File:

PDF, 300 KB

2006

12

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morai

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 2.01 MB

english, 2018

13

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

E. Richard, Lourdes R. Desviat, Belén Pérez, Celia Pérez-Cerdá, M. Ugarte

Journal:

Year:

1997

Language:

english

File:

PDF, 51 KB

english, 1997

14

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

15

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

16

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

17

Mutation analysis of phenylketonuria patients from Morocco: High prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X

Saloua Dahri, Lourdes R. Desviat, Belén Pérez, Fátima Leal, Magdalena Ugarte, Layachi Chabraoui

Journal:

Clinical Biochemistry

Year:

2010

Language:

english

File:

PDF, 508 KB

english, 2010

18

Phenotype distribution in the Spanish phenylketonuria population and related genotypes

M. Martínez-Pardo, A. R. Colmenares, M. J. García, B. Pérez, L. R. Desviat, M. Ugarte

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 148 KB

english, 1994

19

Protein misfolding diseases: prospects of pharmacological treatment

Gámez, Alejandra, Yuste-Checa, Patricia, Brasil, Sandra, Briso-Montiano, Álvaro, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

20

Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene

Alonso-Barroso, Esmeralda, Brasil, Sandra, Briso-Montiano, Álvaro, Navarrete, Rosa, Pérez-Cerdá, Celia, Ugarte, Magdalena, Pérez, Belén, Desviat, Lourdes R., Richard, Eva

Journal:

Stem Cell Research

Year:

2017

Language:

english

File:

PDF, 1.10 MB

english, 2017

21

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

22

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

23

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

Vega, Ana I, Medrano, Celia, Navarrete, Rosa, Desviat, Lourdes R, Merinero, Begoña, Rodríguez-Pombo, Pilar, Vitoria, Isidro, Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belen

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 501 KB

english, 2016

24

COST Actions: fostering collaborative research for rare diseases

Desviat, Lourdes R, Mallebrera, Cecilia Jiménez, Vallejo-Illarramendi, Ainara, Mayán, María D, Nogales-Gadea, Gisela, Arechavala-Gomeza, Virginia

Journal:

The Lancet Neurology

Year:

2019

File:

PDF, 718 KB

2019

25

Phenylketonuria in Spain: RFLP haplotypes and linked mutations

Lourdes R. Desviat, Belén Pérez, Magdalena Ugarte

Journal:

Year:

1993

Language:

english

File:

PDF, 443 KB

english, 1993

26

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

Belén Pérez, Celia Angaroni, Rocio Sánchez-Alcudia, Begoña Merinero, Celia Pérez-Cerdá, N. Specola, P. Rodríguez-Pombo, Moacir Wajner, Raquel Dodelson de Kremer, Verónica Cornejo, Lourdes R. Desviat,

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 147 KB

english, 2010

27

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

Desviat, L R, Pérez, B, Gámez, A, Sánchez, A, García, M J, Martínez-Pardo, M, Marchante, C, Bóveda, D, Baldellou, A, Arena, J

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 99 KB

english, 1999

28

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

29

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

30

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II

L. Matos, V. Gonçalves, E. Pinto, F. Laranjeira, M. J. Prata, P. Jordan, L. R. Desviat, B. Pérez, S. Alves

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

31

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

32

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

33

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

34

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

Yuste-Checa, Patricia, Gámez, Alejandra, Brasil, Sandra, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén

Journal:

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

35

Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations

Marisel De Lucca, Belén Pérez, Lourdes R. Desviat, Magdalena Ugarte

Journal:

Year:

1998

Language:

english

File:

PDF, 156 KB

english, 1998

36

Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

B. Merinero, B. Pérez, C. Pérez-Cerdá, A. Rincón, L. R. Desviat, M. A. Martínez, P. Ruiz Sala, M. J. García, L. Aldamiz-Echevarría, J. Campos, V. Cornejo, M. del Toro, A. Mahfoud, M. Martínez-Pardo, R

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 416 KB

english, 2008

37

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

38

Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34

Lourdes R. Desviat, Belén Pérez, Magdalena Ugarte

Journal:

Year:

1997

Language:

english

File:

PDF, 104 KB

english, 1997

39

Molecular basis of phenylketonuria in Cuba

L.R. Desviat, B. Pérez, E. Gutierrez, A. Sánchez, B. Barrios, M. Ugarte

Journal:

Year:

2001

Language:

english

File:

PDF, 20 KB

english, 2001

40

Novel features in the evolution of adenylosuccinate lyase deficiency

Belén Pérez-Dueñas, Ángela Sempere, Jaume Campistol, Itziar Alonso-Colmenero, María Díez, Verónica González, Begoña Merinero, Lourdes R. Desviat, Rafael Artuch

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 730 KB

english, 2012

41

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

42

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

43

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress

Yuste-Checa, Patricia, Vega, Ana I., Martín-Higueras, Cristina, Medrano, Celia, Gámez, Alejandra, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén, Lewin, Alfred S.

Journal:

Year:

2017

Language:

english

File:

PDF, 11.24 MB

english, 2017

44

Organization of the murE-murG region of Escherichia coli: identification of the murD gene encoding the D-glutamic-acid-adding enzyme.

Mengin-Lecreulx, D, Parquet, C, Desviat, L R, Plá, J, Flouret, B, Ayala, J A, van Heijenoort, J

Journal:

Journal of Bacteriology

Year:

1989

Language:

english

File:

PDF, 2.15 MB

english, 1989

45

The Genetic Landscape and Epidemiology of Phenylketonuria

Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, ÄorÄeviÄ, Maja, Desviat, Lourdes R., Eliyahu,

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 1.97 MB

2020

46

Mutation analysis of phenylketonuria in South Brazil

Belén Pérez, Lourdes R. Desviat, Marisel De Lucca, Benjamin Schmidt, Nicole Loghin-Grosso, Roberto Giugliani, Ricardo F. Pires, Magdalena Ugarte

Journal:

Year:

1996

Language:

english

File:

PDF, 326 KB

english, 1996

47

Mutations affecting the β–β homomeric interaction in propionic acidaemia: An approach to the determination of the β-propionyl-CoA carboxylase functional domains

S. Muro, B. Pérez, P. Rodríguez-Pombo, L. R. Desviat, C. Pérez-Cerd´, M. Ugarte

Journal:

Journal of Inherited Metabolic Disease

Year:

2000

Language:

english

File:

PDF, 92 KB

english, 2000

48

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

49

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency

Sandra Brasil, Hiu Man Viecelli, David Meili, Anahita Rassi, Lourdes R. Desviat, Belen Pérez, Magdalena Ugarte, Beat Thöny

Journal:

Year:

2011

Language:

english

File:

PDF, 404 KB

english, 2011

50

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families

B. Pérez, L. R. Desviat, M. J. García, M. Ugarte

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 96 KB

english, 1994

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