Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
Pineda, Merce, Ormazabal, Aida, López-Gallardo, Esther, Nascimento, Andres, Solano, Abelardo, Herrero, Maria D., Vilaseca, Maria A., Briones, Paz, Ibáñez, Lourdes, Montoya, Julio, Artuch, Rafael
Published in Annals of neurology (01.02.2006)
Published in Annals of neurology (01.02.2006)
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Journal Article
new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)
Herrero-Martín, María D, Pineda, Mercedes, Briones, Paz, López-Gallardo, Ester, Carreras, Magdalena, Benac, Mercedes, Angel Idoate, Miguel, Vilaseca, María A, Artuch, Rafael, López-Pérez, Manuel J, Ruiz-Pesini, Eduardo, Montoya, Julio
Published in Human mutation (01.08.2008)
Published in Human mutation (01.08.2008)
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Journal Article
A longitudinal study of antioxidant status in phenylketonuric patients
Artuch, Rafael, Colomé, Catrina, Sierra, Cristina, Brandi, Nuria, Lambruschini, Nilo, Campistol, Jaume, Ugarte, Dolores, Vilaseca, Maria A
Published in Clinical biochemistry (01.03.2004)
Published in Clinical biochemistry (01.03.2004)
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Journal Article
Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation
Quintana, Ester, Montero, Raquel, Casado, Mercedes, Navarro-Sastre, Aleix, Vilaseca, María A., Briones, Paz, Artuch, Rafael
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.08.2009)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.08.2009)
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Journal Article
Selenium Concentration in Cerebrospinal Fluid Samples from a Paediatric Population
Tondo, Mireia, Moreno, Juan, Casado, Mercedes, Brandi, Nuria, Sierra, Cristina, Vilaseca, Maria A., Ormazabal, Aida, Artuch, Rafael
Published in Neurochemical research (01.08.2010)
Published in Neurochemical research (01.08.2010)
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Journal Article
Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin
Vilaseca, Maria A., Lambruschini, Nilo, Gómez-López, Lilianne, Gutiérrez, Alejandra, Moreno, Juan, Tondo, Mireia, Artuch, Rafael, Campistol, Jaume
Published in Clinical biochemistry (01.03.2010)
Published in Clinical biochemistry (01.03.2010)
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Journal Article
Neuropsychiatric manifestations in late-onset urea cycle disorder patients
Serrano, Mercedes, Martins, Cecilia, Pérez-Dueñas, Belén, Gómez-López, Lilian, Murgui, Empar, Fons, Carmen, García-Cazorla, Angels, Artuch, Rafael, Jara, Fernando, Arranz, José A, Häberle, Johannes, Briones, Paz, Campistol, Jaume, Pineda, Mercedes, Vilaseca, Maria A
Published in Journal of child neurology (01.03.2010)
Published in Journal of child neurology (01.03.2010)
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Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
Sempere, Angela, Arias, Angela, Farré, Guillermo, García-Villoria, Judith, Rodríguez-Pombo, Pilar, Desviat, Lurdes R, Merinero, Begoña, García-Cazorla, Angels, Vilaseca, Maria A, Ribes, Antonia, Artuch, Rafael, Campistol, Jaume
Published in Journal of inherited metabolic disease (01.02.2010)
Published in Journal of inherited metabolic disease (01.02.2010)
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Journal Article
Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets
Gudiño, Marco A, Campistol, Jaume, Chavez, Beatriz, Conill, Joan, Hernández, Susanna, Vilaseca, María A
Published in Journal of child neurology (01.02.2002)
Published in Journal of child neurology (01.02.2002)
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Journal Article
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)
Iqbal, Furhan, Item, Chike B., Vilaseca, Maria A., Jalan, Anil, Mühl, Adolf, Couce, Maria L., Duat, Ana, Delgado, Maria P., Bosch, Joaquim, Puche, Alberto, Campistol, Jaume, Pineda, Mercè, Bodamer, Olaf A.
Published in Molecular genetics and metabolism (01.05.2010)
Published in Molecular genetics and metabolism (01.05.2010)
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Journal Article
Epilepsy spectrum in cerebral creatine transporter deficiency
Fons, Carmen, Sempere, Ángela, Sanmartí, Francesc X., Arias, Ángela, Póo, Pilar, Pineda, Mercedes, Ribes, Antonia, Merinero, Begoña, Vilaseca, Maria A., Salomons, Gajja S., Artuch, Rafael, Campistol, Jaume
Published in Epilepsia (Copenhagen) (01.09.2009)
Published in Epilepsia (Copenhagen) (01.09.2009)
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Journal Article
The monitoring of trace elements in blood samples from patients with inborn errors of metabolism
Tondo, Mireia, Lambruschini, Nilo, Gomez-Lopez, Lilianne, Gutierrez, Alejandra, Moreno, Juan, García-Cazorla, Angels, Pérez-Dueñas, Belén, Pineda, Mercé, Campistol, Jaume, Vilaseca, Maria A., Artuch, Rafael
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Journal Article
Congenital Disorder of Glycosylation Type Ia Revealed by Hypertransaminasemia and Failure To Thrive in a Young Boy with Normal Neurodevelopment
Pancho, Cristina, Garcia-Cazorla, Angels, Varea, Vincente, Artuch, Rafael, Ferrer, Immaculada, Vilaseca, Maria A, Briones, Paz, Campistol, Juame
Published in Journal of pediatric gastroenterology and nutrition (01.02.2005)
Published in Journal of pediatric gastroenterology and nutrition (01.02.2005)
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Journal Article
Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA
PINEDA, Mercedes, SOLANO, Abelardo, ARTUCH, Rafael, ANDREU, Antonio L, PLAYAN, Ana, VILASECA, Maria A, COLOMER, Jaime, BRIONES, Paz, CASADEMONT, Jordi, MONTOYA, Julio
Published in Pediatric research (01.07.2004)
Published in Pediatric research (01.07.2004)
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Journal Article
Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency
López-Laso, Eduardo, Ormazabal, Aida, Camino, Rafael, Gascón, Francisco J., Ochoa, Juan J., Mateos, María E., Muñoz, María J., Pérez-Navero, Juan L., Lao, José I., Vilaseca, María A., Artuch, Rafael
Published in Clinical biochemistry (01.09.2006)
Published in Clinical biochemistry (01.09.2006)
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Journal Article
Ubiquinone-10 content in lymphocytes of phenylketonuric patients
Colomé, Catrina, Artuch, Rafael, Vilaseca, Maria A., Sierra, Cristina, Brandi, Nuria, Cambra, Francisco J., Lambruschini, Nilo, Campistol, Jaume
Published in Clinical biochemistry (01.02.2002)
Published in Clinical biochemistry (01.02.2002)
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Journal Article
Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases
Artuch, Rafael, Colomé, Catrina, Playán, Ana, Alcaine, María J, Briones, Paz, Montoya, Julio, Vilaseca, Maria A, Pineda, Mercé
Published in Clinical biochemistry (01.08.2000)
Published in Clinical biochemistry (01.08.2000)
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Journal Article
Congenital Disorder of Glycosylation Type Ia Revealed by Hypertransaminasemia and Failure To Thrive in a Young Boy with Normal Neurodevelopment
Pancho, Cristina, Garcia‐Cazorla, Angels, Varea, Vincente, Artuch, Rafael, Ferrer, Immaculada, Vilaseca, Maria A, Briones, Paz, Campistol, Juame
Published in Journal of pediatric gastroenterology and nutrition (01.02.2005)
Published in Journal of pediatric gastroenterology and nutrition (01.02.2005)
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