Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening
Arias, Angela, Corbella, Marc, Fons, Carmen, Sempere, Angela, García-Villoria, Judit, Ormazabal, Aida, Poo, Pilar, Pineda, Mercé, Vilaseca, María Antonia, Campistol, Jaume, Briones, Paz, Pàmpols, Teresa, Salomons, Gajja S., Ribes, Antonia, Artuch, Rafael
Published in Clinical biochemistry (01.11.2007)
Published in Clinical biochemistry (01.11.2007)
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Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency
Quintana, E, Gort, L, Busquets, C, Navarro-Sastre, A, Lissens, W, Moliner, S, Lluch, M, Vilaseca, MA, De Meirleir, L, Ribes, A, Briones, P
Published in Clinical genetics (01.05.2010)
Published in Clinical genetics (01.05.2010)
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Monitoring of idebenone treatment in patients with Friedreich's ataxia by high-pressure liquid chromatography with electrochemical detection
Artuch, Rafael, Colomé, Catrina, Vilaseca, Maria Antònia, Aracil, Asun, Pineda, Mercè
Published in Journal of neuroscience methods (30.03.2002)
Published in Journal of neuroscience methods (30.03.2002)
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Cerebrospinal fluid concentrations of idebenone in Friedreich ataxia patients
Artuch, R, Aracil, A, Mas, A, Monrós, E, Vilaseca, M A, Pineda, M
Published in Neuropediatrics (01.04.2004)
Published in Neuropediatrics (01.04.2004)
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Plasma total-homocysteine in anorexia nervosa
MOYANO, D, VILASECA, M. A, ARTUCH, R, VALLS, C, LAMBRUSCHINI, N
Published in European journal of clinical nutrition (01.03.1998)
Published in European journal of clinical nutrition (01.03.1998)
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Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients
García-Cazorla, Angels, Oyarzabal, Alfonso, Fort, Joana, Robles, Concepción, Castejón, Esperanza, Ruiz-Sala, Pedro, Bodoy, Susanna, Merinero, Begoña, Lopez-Sala, Anna, Dopazo, Joaquín, Nunes, Virginia, Ugarte, Magdalena, Artuch, Rafael, Palacín, Manuel, Rodríguez-Pombo, Pilar, Alcaide, Patricia, Navarrete, Rosa, Sanz, Paloma, Font-Llitjós, Mariona, Vilaseca, Ma Antonia, Ormaizabal, Aida, Pristoupilova, Anna, Agulló, Sergi Beltran
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
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Neurocognitive function in mild hyperphenylalaninemia
CAMPISTOL, JAUME, GASSIÓ, ROSA, ARTUCH, RAFAEL, VILASECA, Ma ANTONIA
Published in Developmental medicine and child neurology (01.05.2011)
Published in Developmental medicine and child neurology (01.05.2011)
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Plasma amino acids in anorexia nervosa
MOYANO, D, VILASECA, M. A, ARTUCH, R, LAMBRUSCHINI, N
Published in European journal of clinical nutrition (01.09.1998)
Published in European journal of clinical nutrition (01.09.1998)
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Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series
Pineda, M., Perez-Poyato, M.S., O’Callaghan, M., Vilaseca, M.A., Pocovi, M., Domingo, R., Ruiz Portal, L., Verdú Pérez, A., Temudo, T., Gaspar, A., Garcia Peñas, J.J., Roldán, S., Martín Fumero, L., Blanco de la Barca, O., García Silva, M.T., Macías-Vidal, J., Coll, M.J.
Published in Molecular genetics and metabolism (01.04.2010)
Published in Molecular genetics and metabolism (01.04.2010)
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Neurocognitive function in mild hyperphenylalaninemia: Review
CAMPISTOL, JAUME, GASSIÓ, ROSA, ARTUCH, RAFAEL, VILASECA, Ma ANTONIA
Published in Developmental medicine and child neurology (01.05.2011)
Published in Developmental medicine and child neurology (01.05.2011)
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Coenzyme-Q(10) concentration in human phenylketonuria
Artuch, R, Vilaseca, M A, Lambruschini, N, Campistol, J
Published in Journal of inherited metabolic disease (01.01.2003)
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Published in Journal of inherited metabolic disease (01.01.2003)
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Cognitive functions in classic phenylketonuria and mild hyperphenyl-alaninaemia: experience in a paediatric population
Gassió, Rosa, Artuch, Rafael, Vilaseca, Maria Antonia, Fusté, Eugenia, Boix, Cristina, Sans, Anna, Campistol, Jaume
Published in Developmental medicine and child neurology (01.07.2005)
Published in Developmental medicine and child neurology (01.07.2005)
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Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy
Lambruschini, Nilo, Pérez-Dueñas, Belén, Vilaseca, Maria Antonia, Mas, Anna, Artuch, Rafael, Gassió, Rosa, Gómez, Lilian, Gutiérrez, Alejandra, Campistol, Jaume
Published in Molecular genetics and metabolism (01.12.2005)
Published in Molecular genetics and metabolism (01.12.2005)
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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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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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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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Arginine supplementation in four patients with X-linked creatine transporter defect
Fons, C, Sempere, A, Arias, A, López-Sala, A, Póo, P, Pineda, M, Mas, A, Vilaseca, M. A, Salomons, G. S, Ribes, A, Artuch, R, Campistol, J
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency
Fons, C., Arias, A., Sempere, A., Póo, P., Pineda, M., Mas, A., López-Sala, A., Garcia-Villoria, J., Vilaseca, M.A., Ozaez, L., Lluch, M., Artuch, R., Campistol, J., Ribes, A.
Published in Molecular genetics and metabolism (01.03.2010)
Published in Molecular genetics and metabolism (01.03.2010)
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X‐Linked creatine transporter deficiency in two patients with severe mental retardation and autism
Póo‐Argüelles, P., Arias, A., Vilaseca, M. A., Ribes, A., Artuch, R., Sans‐Fito, A., Moreno, A., Jakobs, C., Salomons, G.
Published in Journal of inherited metabolic disease (01.02.2006)
Published in Journal of inherited metabolic disease (01.02.2006)
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Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations
Pérez-Dueñas, B, García-Cazorla, A, Pineda, M, Poo, P, Campistol, J, Cusí, V, Schollen, E, Matthijs, G, Grunewald, S, Briones, P, Pérez-Cerdá, C, Artuch, R, Vilaseca, M.A
Published in European journal of paediatric neurology (01.09.2009)
Published in European journal of paediatric neurology (01.09.2009)
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