Decreased serum ubiquinone-10 concentrations in phenylketonuria
Artuch, Rafael, Vilaseca, M-Antònia, Moreno, Juan, Lambruschini, Nilo, Cambra, Francisco J, Campistol, Jaume
Published in The American journal of clinical nutrition (01.11.1999)
Published in The American journal of clinical nutrition (01.11.1999)
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Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study
Tessa, Alessandra, Fiermonte, Giuseppe, Dionisi-Vici, Carlo, Paradies, Eleonora, Baumgartner, Matthias R, Chien, Yin-Hsiu, Loguercio, Carmela, de Baulny, Helene Ogier, Nassogne, Marie-Cecile, Schiff, Manuel, Deodato, Federica, Parenti, Giancarlo, Lane Rutledge, S, Antonia Vilaseca, M, Melone, Mariarosa A.B, Scarano, Gioacchino, Aldamiz-Echevarría, Luiz, Besley, Guy, Walter, John, Martinez-Hernandez, Eugenia, Hernandez, Jose M, Pierri, Ciro L, Palmieri, Ferdinando, Santorelli, Filippo M
Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
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Journal Article
Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies
Also-Rallo, Eva, Lopez-Quesada, Eva, Urreizti, Roser, Vilaseca, M. Antònia, Lailla, Josep M., Balcells, Susana, Grinberg, Daniel
Published in European journal of obstetrics & gynecology and reproductive biology (01.05.2005)
Published in European journal of obstetrics & gynecology and reproductive biology (01.05.2005)
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Journal Article
Are plasma total homocysteine and other amino acids associated with glucose intolerance in uncomplicated pregnancies and preeclampsia?
López-Quesada, Eva, Antònia Vilaseca, M., Gómez, Elena, Lailla, Josep M.
Published in European journal of obstetrics & gynecology and reproductive biology (01.03.2005)
Published in European journal of obstetrics & gynecology and reproductive biology (01.03.2005)
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Journal Article
Anti-Epileptic drug treatment in children: Hyperhomocysteinaemia, B-Vitamins and the 677C→T Mutation of the Methylenetetrahydrofolate Reductase Gene
Vilaseca, M Antònia, Monrós, Eugènia, Artuch, Rafael, Colomé, Catrina, Farré, Carme, Valls, Carme, Cardo, Esther, Pineda, Mercè
Published in European journal of paediatric neurology (2000)
Published in European journal of paediatric neurology (2000)
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Journal Article
Selective screening for hyperhomocysteinemia in pediatric patients
VILASECA, M. A, MOYANO, D, ARTUCH, R, FERRER, I, PINEDA, M, CARDO, E, CAMPISTOL, J, PAVIA, C, CAMACHO, J.-A
Published in Clinical chemistry (Baltimore, Md.) (01.03.1998)
Published in Clinical chemistry (Baltimore, Md.) (01.03.1998)
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Journal Article
Hyperlactatemia in human immunodeficiency virus-uninfected infants who are exposed to antiretrovirals
Noguera, Antoni, Fortuny, Claudia, Muñoz-Almagro, Carmen, Sanchez, Emilia, Vilaseca, M Antonia, Artuch, Rafael, Pou, Jordi, Jimenez, Rafael
Published in Pediatrics (Evanston) (01.11.2004)
Published in Pediatrics (Evanston) (01.11.2004)
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Journal Article
Total homocysteine in pediatric patients
VILASECA, M. A, MOYANO, D, FERRER, I, ARTUCH, R
Published in Clinical chemistry (Baltimore, Md.) (01.04.1997)
Published in Clinical chemistry (Baltimore, Md.) (01.04.1997)
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Journal Article
A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency
Ruiz, Angeles, García-Villoria, Judit, Ormazabal, Aida, Zschocke, Johannes, Fiol, Miquel, Navarro-Sastre, Aleix, Artuch, Rafael, Vilaseca, M a Antonia, Ribes, Antonia
Published in Molecular genetics and metabolism (01.02.2008)
Published in Molecular genetics and metabolism (01.02.2008)
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Journal Article
cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression
Zavadáková, Petra, Fowler, Brian, Suormala, Terttu, Novotna, Zorka, Mueller, Peter, Hennermann, Julia B., Zeman, Jiří, Vilaseca, M. Antonia, Vilarinho, Laura, Gutsche, Sven, Wilichowski, Ekkehard, Horneff, Gerd, Kožich, Viktor
Published in Human mutation (01.03.2005)
Published in Human mutation (01.03.2005)
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Journal Article
Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases
Armayones, Manuel, Vilaseca, M Antònia, Cutillas, Júlia, Fàbrega, Jordi, Fernández, Jorge Juan, García, Mei, Egea, Natàlia, Pousada, Modesta, Gómez-Zuñiga, Beni, Pérez-Payarols, Jaume, Artuch, Rafael, Palau, Francesc, Serrano, Mercedes
Published in Orphanet journal of rare diseases (21.08.2012)
Published in Orphanet journal of rare diseases (21.08.2012)
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Journal Article
Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?
Millet, Pablo, Vilaseca, M. Antonia, Valls, Carme, Pérez-Dueñas, Belén, Artuch, Rafael, Gómez, Lilian, Lambruschini, Nilo, Campistol, Jaume
Published in Clinical biochemistry (01.12.2005)
Published in Clinical biochemistry (01.12.2005)
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Journal Article
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression
Zavadáková, Petra, Fowler, Brian, Suormala, Terttu, Novotna, Zorka, Mueller, Peter, Hennermann, Julia B., Zeman, Jiří, Vilaseca, M. Antonia, Vilarinho, Laura, Gutsche, Sven, Wilichowski, Ekkehard, Horneff, Gerd, Kožich, Viktor
Published in Human mutation (01.12.2005)
Published in Human mutation (01.12.2005)
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Journal Article
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease
Briones, Paz, Vilaseca, M Antonia, Garcı́a-Silva, M Teresa, Pineda, Mercé, Colomer, Jaume, Ferrer, Imma, Artigas, J, Jaeken, Jaak, Chabás, Amparo
Published in European journal of paediatric neurology (2001)
Published in European journal of paediatric neurology (2001)
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Journal Article
Personal Experience with the Application of Carbohydrate-Deficient Transferrin (CDT) Assays to the Detection of Congenital Disorders of Glycosylation
Colomé, Catrina, Ferrer, Imma, Artuch, Rafael, Vilaseca, M. Antònia, Pineda, Mercè, Briones, Paz
Published in Clinical chemistry and laboratory medicine (01.10.2000)
Published in Clinical chemistry and laboratory medicine (01.10.2000)
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Journal Article
Children With Stroke: Polymorphism of the MTHFR Gene, Mild Hyperhomocysteinemia, and Vitamin Status
Cardo, Esther, Monrós, Eugènia, Colomé, Catrina, Artuch, Rafael, Campistol, Jaume, Pineda, Mercè, Vilaseca, M. Antònia
Published in Journal of child neurology (01.05.2000)
Published in Journal of child neurology (01.05.2000)
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Journal Article
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes
MALLOLAS, Judith, VILASECA, M. Antonia, PAVIA, Carlos, LAMBRUSCHINI, Nilo, CAMBRA, Francisco José, CAMPISTOL, Jaume, GOMEZ, David, CARRIO, Ana, ESTIVILL, Xavier, MILA, Montserrat
Published in Journal of molecular medicine (Berlin, Germany) (01.02.2001)
Published in Journal of molecular medicine (Berlin, Germany) (01.02.2001)
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