M.Antonia Vilaseca : rechercher sur Z-Library

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1

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S

Roser Urreizti, Susana Balcells, Marga Rodés, Laura Vilarinho, Antonio Baldellou, María Luz Couce, Carmen Muñoz, Jaume Campistol, Xavier Pintó, María Antonia Vilaseca, Daniel Grinberg

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 91 KB

english, 2003

2

Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies

Eva Also-Rallo, Eva Lopez-Quesada, Roser Urreizti, M. Antònia Vilaseca, Josep M. Lailla, Susana Balcells, Daniel Grinberg

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Année:

2005

Langue:

english

Fichier:

PDF, 128 KB

english, 2005

3

R. Carnicer, M. Navarro, J.M. Arbones-Mainar, S. Acin, M.A. Guzman, J.C. Surra, C. Arnal, M. De Las Heras, F. Blanco-Vaca, J. Osada, ,La suplementación con ácido fólico retrasa el desarrollo de lesions ateroscleróticas en ratones apo E deficientes Folic acid supplementation delays atherosclerotic lesion development in apoE-deficient mice Life Sci 80 (2007) 638 643.

M. Antonia Vilaseca

Journal:

Clínica e Investigación en Arteriosclerosis

Année:

2007

Fichier:

PDF, 54 KB

2007

4

Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases

Manuel Armayones, M Antònia Vilaseca, Júlia Cutillas, Jordi Fàbrega, Jorge Juan Fernández, Mei García, Natàlia Egea, Modesta Pousada, Beni Gómez-Zuñiga, Jaume Pérez-Payarols, Rafael Artuch, Francesc P

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 705 KB

english, 2012

5

Two novel mutations in exon 11 of the PAH gene (V1163 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria

Judith Mallolas, Jaume Campistol, Nilo Lambruschini, Maria Antònia Vilaseca, F. José Cambra, Xavier Estivill, Montserrat Milà

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 88 KB

english, 1998

6

Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency

Consuelo Climent, Miguel Ángel García-Pérez, Pablo Sanjurjo, José-Ignacio Ruiz-Sanz, María Antònia Vilaseca, Mercè Pineda, Jaume Campistol, Vicente Rubio

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 16 KB

english, 1999

7

Antioxidant status in anorexia nervosa

Dolores Moyano, Cristina Sierra, Nuria Brandi, Rafael Artuch, Aurea Mira, Santiago García-Tornel, M. Antònia Vilaseca

Journal:

Journal of Eating Disorders

Année:

1999

Langue:

english

Fichier:

PDF, 122 KB

english, 1999

8

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

Petra Zavadáková, Brian Fowler, Terttu Suormala, Zorka Novotna, Peter Mueller, Julia B. Hennermann, Jiří Zeman, M. Antonia Vilaseca, Laura Vilarinho, Sven Gutsche, Ekkehard Wilichowski, Gerd Horneff,

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 241 KB

english, 2005

9

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression

Petra Zavadáková, Brian Fowler, Terttu Suormala, Zorka Novotna, Peter Mueller, Julia B. Hennermann, Jiří Zeman, M. Antonia Vilaseca, Laura Vilarinho, Sven Gutsche, Ekkehard Wilichowski, Gerd Horneff,

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 69 KB

english, 2005

10

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

Mónica Cozar, Roser Urreizti, Laura Vilarinho, Carola Grosso, Raquel Dodelson de Kremer, Carla G. Asteggiano, Jaime Dalmau, Ana María García, María Antonia Vilaseca, Daniel Grinberg, Susana Balcells

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 294 KB

english, 2011

11

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

Roser Urreizti, Carla Asteggiano, Mónica Cozar, Nina Frank, María Antonia Vilaseca, Daniel Grinberg, Susana Balcells

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 273 KB

english, 2006

12

Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl

Emilio Fernández-Álvarez, Angeles García-Cazorla, Anna Sans, Cristina Boix, María Antonia Vilaseca, Christianne Busquets, Antonia Ribes

Journal:

Movement Disorders

Année:

2003

Langue:

english

Fichier:

PDF, 725 KB

english, 2003

13

Tetrahydrobiopterin responsiveness in patients with phenylketonuria

Belén Pérez-Dueñas, Maria Antonia Vilaseca, Anna Mas, Nilo Lambruschini, Rafael Artuch, Lilian Gómez, Julia Pineda, Alejandra Gutiérrez, Montse Mila, Jaume Campistol

Journal:

Clinical Biochemistry

Année:

2004

Langue:

english

Fichier:

PDF, 225 KB

english, 2004

14

Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?

Pablo Millet, M. Antonia Vilaseca, Carme Valls, Belén Pérez-Dueñas, Rafael Artuch, Lilian Gómez, Nilo Lambruschini, Jaume Campistol

Journal:

Clinical Biochemistry

Année:

2005

Langue:

english

Fichier:

PDF, 149 KB

english, 2005

15

A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case–control study

Roser Urreizti, Carla Asteggiano, Maria Antonia Vilaseca, Emili Corbella, Xavier Pintó, Daniel Grinberg, Susana Balcells

Journal:

Clinical Biochemistry

Année:

2007

Langue:

english

Fichier:

PDF, 147 KB

english, 2007

16

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Angela Arias, Marc Corbella, Carmen Fons, Angela Sempere, Judit García-Villoria, Aida Ormazabal, Pilar Poo, Mercé Pineda, María Antonia Vilaseca, Jaume Campistol, Paz Briones, Teresa Pàmpols, Gajja S.

Journal:

Clinical Biochemistry

Année:

2007

Langue:

english

Fichier:

PDF, 162 KB

english, 2007

17

Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment?

Catrina Colomé, Rafael Artuch, Nilo Lambruschini, Francisco J Cambra, Jaume Campistol, Maria-Antònia Vilaseca

Journal:

Clinical Biochemistry

Année:

2001

Langue:

english

Fichier:

PDF, 82 KB

english, 2001

18

Monitoring of idebenone treatment in patients with Friedreich's ataxia by high-pressure liquid chromatography with electrochemical detection

Rafael Artuch, Catrina Colomé, Maria Antònia Vilaseca, Asun Aracil, Mercè Pineda

Journal:

Journal of Neuroscience Methods

Année:

2002

Langue:

english

Fichier:

PDF, 93 KB

english, 2002

19

Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation

Rafael Artuch, Imma Ferrer, Julia Pineda, Justo Moreno, Christiane Busquets, Paz Briones, Maria Antonia Vilaseca

Journal:

Journal of Neuroscience Methods

Année:

2003

Langue:

english

Fichier:

PDF, 199 KB

english, 2003

20

Large de novo deletion in chromosome 12 affecting thePAH,IGF1,ASCL1, andTRA1genes

Judith Mallolas, M. Antònia Vilaseca, Carlos Pavia, Nilo Lambruschini, Francisco José Cambra, Jaume Campistol, David Gómez, Ana Carrió, Xavier Estivill, Montserrat Milà

Journal:

Journal of Molecular Medicine

Année:

2001

Langue:

english

Fichier:

PDF, 92 KB

english, 2001

21

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

Mercedes Serrano, Isabel Lizarraga, Jochen Reiss, Anna Paula Dias, Belén Pérez-Dueñas, Maria Antonia Vilaseca, Rafael Artuch, Jaume Campistol, Angels García-Cazorla

Journal:

Pediatric Radiology

Année:

2007

Langue:

english

Fichier:

PDF, 193 KB

english, 2007

22

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

J. Mallolas, M. Antònia Vilaseca, J. Campistol, N. Lambruschini, F. José Cambra, X. Estivill, M. Milà

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 35 KB

english, 1999

23

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

Angela Sempere, Angela Arias, Guillermo Farré, Judith García-Villoria, Pilar Rodríguez-Pombo, Lurdes R. Desviat, Begoña Merinero, Angels García-Cazorla, Maria A. Vilaseca, Antonia Ribes, Rafael Artuch

Journal:

Journal of Inherited Metabolic Disease

Année:

2010

Langue:

english

Fichier:

PDF, 135 KB

english, 2010

24

Cerebellar Hemorrhage in a Patient with Propionic Acidemia

Daniel Velasco-Sánchez, Lilianne Gómez-Lopez, María Antonia Vilaseca, Mercedes Serrano, Sara Massaguer, Jaume Campistol, Ángels García-Cazorla

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 103 KB

english, 2009

25

Methods for the diagnosis of creatine deficiency syndromes: A comparative study

Angela Arias, Aida Ormazabal, Juan Moreno, Bernardino González, Maria Antonia Vilaseca, Judit García-Villoria, Teresa Pàmpols, Paz Briones, Rafael Artuch, Antonia Ribes

Journal:

Journal of Neuroscience Methods

Année:

2006

Langue:

english

Fichier:

PDF, 250 KB

english, 2006

26

Homocysteine and other plasma amino acids in preeclampsia and in pregnancies without complications

Eva López-Quesada, Maria-Antònia Vilaseca, Rafael Artuch, Elena Gómez, Josep M Lailla

Journal:

Clinical Biochemistry

Année:

2003

Langue:

english

Fichier:

PDF, 79 KB

english, 2003

27

Cognitive functions in classic phenylketonuria and mild hyperphenyl-alaninaemia: experience in a paediatric population

Rosa Gassió, Rafael Artuch, Maria Antonia Vilaseca, Eugenia Fusté, Cristina Boix, Anna Sans, Jaume Campistol

Journal:

Developmental Medicine & Child Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 99 KB

english, 2005

28

Neurocognitive function in mild hyperphenylalaninemia

JAUME CAMPISTOL, ROSA GASSIÓ, RAFAEL ARTUCH, Ma ANTONIA VILASECA, for the PKU Follow-up Unit

Journal:

Developmental Medicine & Child Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 125 KB

english, 2011

29

Epilepsy spectrum in cerebral creatine transporter deficiency

Carmen Fons, Ángela Sempere, Francesc X. Sanmartí, Ángela Arias, Pilar Póo, Mercedes Pineda, Antonia Ribes, Begoña Merinero, Maria A. Vilaseca, Gajja S. Salomons, Rafael Artuch, Jaume Campistol

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 118 KB

english, 2009

30

Evaluation of hyperhomocysteinaemia in children with stroke

Esther Cardo, M.Antónia Vilaseca, Jaume Campistol, Rafael Artuch, Catrina Colomé, Mercé Pineda

Journal:

European Journal of Paediatric Neurology

Année:

1999

Langue:

english

Fichier:

PDF, 518 KB

english, 1999

31

Anti-Epileptic drug treatment in children: Hyperhomocysteinaemia, B-Vitamins and the 677C→T Mutation of the Methylenetetrahydrofolate Reductase Gene

M Antònia Vilaseca, Eugènia Monrós, Rafael Artuch, Catrina Colomé, Carme Farré, Carme Valls, Esther Cardo, Mercè Pineda

Journal:

European Journal of Paediatric Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 157 KB

english, 2000

32

An atypical French form of pyruvate carboxylase deficiency

Merce Pineda, Jaume Campistol, M. Antonia Vilaseca, Paz Briones, Antonia Ribes, Teresa Temudo, Marti Pons, Victoria Cusi, Marie-Odile Rolland

Journal:

Brain and Development

Année:

1995

Langue:

english

Fichier:

PDF, 453 KB

english, 1995

33

Perinatal outcome prediction by maternal homocysteine and uterine artery Doppler velocimetry

Eva López-Quesada, M.Antonia Vilaseca, Antonio Vela, Josep M. Lailla

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Année:

2004

Langue:

english

Fichier:

PDF, 107 KB

english, 2004

34

Are plasma total homocysteine and other amino acids associated with glucose intolerance in uncomplicated pregnancies and preeclampsia?

Eva López-Quesada, M. Antònia Vilaseca, Elena Gómez, Josep M. Lailla

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Année:

2005

Langue:

english

Fichier:

PDF, 109 KB

english, 2005

35

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period

Johannes Häberle, Maria Antonia Vilaseca, Concetta Meli, Miriam Rigoldi, Fernando Jara, Ignazio Vecchio, Carlo Capra, Rossella Parini

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Année:

2010

Langue:

english

Fichier:

PDF, 66 KB

english, 2010

36

School Performance in Early and Continuously Treated Phenylketonuria

Rosa Gassió, Eugenia Fusté, Anna López-Sala, Rafael Artuch, María Antonia Vilaseca, Jaume Campistol

Journal:

Pediatric Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 94 KB

english, 2005

37

Seizures Versus Dystonia in Encephalopathic Crisis of Glutaric Aciduria Type I

Alfredo Cerisola, Jaume Campistol, Belén Pérez-Dueñas, Pilar Poo, Mercé Pineda, Angels García-Cazorla, Francesc X. Sanmartí, Antonia Ribes, María Antonia Vilaseca

Journal:

Pediatric Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 90 KB

english, 2009

38

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy

Nilo Lambruschini, Belén Pérez-Dueñas, Maria Antonia Vilaseca, Anna Mas, Rafael Artuch, Rosa Gassió, Lilian Gómez, Alejandra Gutiérrez, Jaume Campistol

Journal:

Molecular Genetics and Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 301 KB

english, 2005

39

A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase

Rita Hahnewald, Silke Leimkühler, Antonia Vilaseca, Cecile Acquaviva-Bourdain, Ulrike Lenz, Jochen Reiss

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 218 KB

english, 2006

40

A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

Angeles Ruiz, Judit García-Villoria, Aida Ormazabal, Johannes Zschocke, Miquel Fiol, Aleix Navarro-Sastre, Rafael Artuch, Ma Antonia Vilaseca, Antonia Ribes

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 127 KB

english, 2008

41

Tocopherol in inborn errors of intermediary metabolism

Dolores Moyano, M.Antònia Vilaseca, Mercé Pineda, Jaume Campistol, Anna Vernet, Pilar Póo, Rafael Artuch, Cristina Sierra

Journal:

Clinica Chimica Acta

Année:

1997

Langue:

english

Fichier:

PDF, 452 KB

english, 1997

42

Antioxidant status in hyperphenylalaninemia

Cristina Sierra, M.Antonia Vilaseca, Dolores Moyano, Nuria Brandi, Jaume Campistol, Nilo Lambruschini, Fco.José Cambra, Ramón Deulofeu, Aurea Mira

Journal:

Clinica Chimica Acta

Année:

1998

Langue:

english

Fichier:

PDF, 84 KB

english, 1998

43

Plasma total homocysteine in uncomplicated pregnancy and in preeclampsia

Eva López-Quesada, M.Antonia Vilaseca, Jose M. Lailla

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Année:

2003

Langue:

english

Fichier:

PDF, 100 KB

english, 2003

44

Oxidative stress in Rett syndrome

Cristina Sierra, Marı́a Antonia Vilaseca, Nuria Brandi, Rafael Artuch, Aurea Mira, Manuel Nieto, Mercè Pineda

Journal:

Brain and Development

Année:

2001

Langue:

english

Fichier:

PDF, 79 KB

english, 2001

45

Errores congénitos del metabolismo y práctica deportiva

Mercedes Serrano, M. Antònia Vilaseca, Jaume Campistol

Journal:

Apunts. Medicina de l'Esport

Année:

2010

Fichier:

PDF, 147 KB

2010

46

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

J. Mallolas,M. Antònia Vilaseca,J. Campistol,N. Lambruschini…

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 35 KB

english, 1999

47

Tratamiento y control de los pacientes con fenilcetonuria: resultados del Grupo Colaborativo de Unidades de Seguimiento en España

Jaume Campistol, María Julieta González, Alfonso Pablo Gutiérrez, María Antònia Vilaseca

Journal:

Medicina Clínica

Année:

2012

Fichier:

PDF, 365 KB

2012

48

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency

Raquel Montero, Mercé Pineda, Asun Aracil, Maria-Antonia Vilaseca, Paz Briones, José-Antonio Sánchez-Alcázar, Plácido Navas, Rafael Artuch

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 216 KB

english, 2007

49

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

Paz Briones, M Antonia Vilaseca, M Teresa Garcı&amp, #x0301, a-Silva, Mercé Pineda, Jaume Colomer, Imma Ferrer, J Artigas, Jaak Jaeken, Amparo Chabás

Journal:

European Journal of Paediatric Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 79 KB

english, 2001

50

Cognitive functions and the antioxidant system in phenylketonuric patients.

Gassió, Rosa, Artuch, Rafael, Vilaseca, Maria Antonia, Fusté, Eugenia, Colome, Roser, Campistol, Jaume

Journal:

Neuropsychology

Année:

2008

Langue:

english

Fichier:

PDF, 64 KB

english, 2008