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	1.	Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets. [electronic resource] by Gudiño, Marco A Campistol, Jaume Chavez, Beatriz Conill, Joan Hernández, Susanna Vilaseca, María A Producer: 20021029 In: Journal of child neurology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Neurological complications and behavioral problems in patients with phenylketonuria in a follow-up unit. [electronic resource] by González, María J Gutiérrez, Alfonso P Gassió, Rosa Fusté, María E Vilaseca, María A Campistol, Jaume Producer: 20120320 In: Molecular genetics and metabolism vol. 104 Suppl Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation. [electronic resource] by Quintana, Ester Montero, Raquel Casado, Mercedes Navarro-Sastre, Aleix Vilaseca, María A Briones, Paz Artuch, Rafael Producer: 20090924 In: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences vol. 877 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Selenium concentration in cerebrospinal fluid samples from a paediatric population. [electronic resource] by Tondo, Mireia Moreno, Juan Casado, Mercedes Brandi, Nuria Sierra, Cristina Vilaseca, Maria A Ormazabal, Aida Artuch, Rafael Producer: 20100907 In: Neurochemical research vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A longitudinal study of antioxidant status in phenylketonuric patients. [electronic resource] by Artuch, Rafael Colomé, Catrina Sierra, Cristina Brandi, Nuria Lambruschini, Nilo Campistol, Jaume Ugarte, Dolores Vilaseca, Maria A Producer: 20041005 In: Clinical biochemistry vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Ubiquinone-10 content in lymphocytes of phenylketonuric patients. [electronic resource] by Colomé, Catrina Artuch, Rafael Vilaseca, Maria A Sierra, Cristina Brandi, Nuria Cambra, Francisco J Lambruschini, Nilo Campistol, Jaume Producer: 20020813 In: Clinical biochemistry vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment. [electronic resource] by Pancho, Cristina Garcia-Cazorla, Angels Varea, Vincente Artuch, Rafael Ferrer, Immaculada Vilaseca, Maria A Briones, Paz Campistol, Juame Producer: 20050616 In: Journal of pediatric gastroenterology and nutrition vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin. [electronic resource] by Vilaseca, Maria A Lambruschini, Nilo Gómez-López, Lilianne Gutiérrez, Alejandra Moreno, Juan Tondo, Mireia Artuch, Rafael Campistol, Jaume Producer: 20100510 In: Clinical biochemistry vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA. [electronic resource] by Pineda, Mercedes Solano, Abelardo Artuch, Rafael Andreu, Antonio L Playan, Ana Vilaseca, Maria A Colomer, Jaime Briones, Paz Casademont, Jordi Montoya, Julio Producer: 20041222 In: Pediatric research vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. [electronic resource] by 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 Producer: 20060425 In: Annals of neurology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	The monitoring of trace elements in blood samples from patients with inborn errors of metabolism. [electronic resource] by 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 Producer: 20140408 In: Journal of inherited metabolic disease vol. 33 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Epilepsy spectrum in cerebral creatine transporter deficiency. [electronic resource] by Fons, Carmen Sempere, Angela Sanmartí, Francesc X Arias, Angela Póo, Pilar Pineda, Mercedes Ribes, Antonia Merinero, Begoña Vilaseca, Maria A Salomons, Gajja S Artuch, Rafael Campistol, Jaume Producer: 20090901 In: Epilepsia vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. [electronic resource] by 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 Producer: 20100525 In: Journal of inherited metabolic disease vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). [electronic resource] by 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 Producer: 20100708 In: Molecular genetics and metabolism vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency. [electronic resource] by 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 Producer: 20070112 In: Clinical biochemistry vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1). [electronic resource] by 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 Producer: 20100928 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Neuropsychiatric manifestations in late-onset urea cycle disorder patients. [electronic resource] by 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 Producer: 20100601 In: Journal of child neurology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)