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	1.	New agents and approaches to treatment in Niemann-Pick type C disease. [electronic resource] by Pérez-Poyato, María S Pineda, Mercé Producer: 20110914 In: Current pharmaceutical biotechnology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Monitoring of idebenone treatment in patients with Friedreich's ataxia by high-pressure liquid chromatography with electrochemical detection. [electronic resource] by Artuch, Rafael Colomé, Catrina Vilaseca, Maria Antònia Aracil, Asun Pineda, Mercè Producer: 20020523 In: Journal of neuroscience methods vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain. [electronic resource] by Macías-Vidal, Judit Gort, Laura Lluch, Montse Pineda, Mercè Coll, Maria Josep Producer: 20090527 In: Molecular genetics and metabolism vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A novel mutation in JARID1C gene associated with mental retardation. [electronic resource] by Santos, Cristina Rodriguez-Revenga, Laia Madrigal, Irene Badenas, Celia Pineda, Merce Milà, Montserrat Producer: 20060623 In: European journal of human genetics : EJHG vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	News and comment. [electronic resource] by Armstrong, Judith Póo, Pilar Pineda, Mercè Aibar, Elena Geán, Esther Català, Vicenç Monrós, Eugènia Publication details: Annals of neurology Nov 2001 In: Annals of neurology vol. 50 Availability: No items available. Save to lists Add to cart (remove)
	6.	Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. [electronic resource] by Quintana, Ester Pineda, Mercé Font, Aida Vilaseca, Maria Antonia Tort, Frederic Ribes, Antonia Briones, Paz 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)
	7.	The phenotype associated with a large deletion on MECP2. [electronic resource] by Bebbington, Ami Downs, Jenny Percy, Alan Pineda, Mercé Zeev, Bruria Ben Bahi-Buisson, Nadia Leonard, Helen Producer: 20121226 In: European journal of human genetics : EJHG vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. [electronic resource] by Patterson, Marc C Mengel, Eugen Vanier, Marie T Schwierin, Barbara Muller, Audrey Cornelisse, Peter Pineda, Mercè Producer: 20160229 In: Orphanet journal of rare diseases vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism. [electronic resource] by Tristán-Noguero, Alba Díez, Héctor Jou, Cristina Pineda, Mercè Ormazábal, Aida Sánchez, Aurora Artuch, Rafael Garcia-Cazorla, Àngels Producer: 20180112 In: Metabolic brain disease vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. [electronic resource] by Montero, Raquel Pineda, Mercé Aracil, Asun Vilaseca, Maria-Antonia Briones, Paz Sánchez-Alcázar, José-Antonio Navas, Plácido Artuch, Rafael Producer: 20070725 In: Cerebellum (London, England) vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Disease and patient characteristics in NP-C patients: findings from an international disease registry. [electronic resource] by Patterson, Marc C Mengel, Eugen Wijburg, Frits A Muller, Audrey Schwierin, Barbara Drevon, Harir Vanier, Marie T Pineda, Mercé Producer: 20130723 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. [electronic resource] by Møller, Lisbeth Birk Romstad, Anne Paulsen, Marianne Hougaard, Pia Ormazabal, Aida Pineda, Mercé Blau, Nenad Güttler, Flemming Artuch, Rafael Producer: 20060629 In: Prenatal diagnosis vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population. [electronic resource] by Ormazabal, Aida García-Cazorla, Angels Pérez-Dueñas, Belén Gonzalez, Veronica Fernández-Alvarez, Emilio Pineda, Mercé Campistol, Jaume Artuch, Rafael Producer: 20060929 In: Clinica chimica acta; international journal of clinical chemistry vol. 371 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry. [electronic resource] by Bonnot, Olivier Gama, Clarissa S Mengel, Eugen Pineda, Mercè Vanier, Marie T Watson, Louise Watissée, Marie Schwierin, Barbara Patterson, Marc C Producer: 20200129 In: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I. [electronic resource] by Cerisola, Alfredo Campistol, Jaume Pérez-Dueñas, Belén Poo, Pilar Pineda, Mercé García-Cazorla, Angels Sanmartí, Francesc X Ribes, Antonia Vilaseca, María Antonia Producer: 20090810 In: Pediatric neurology vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency. [electronic resource] by Ormazábal, Aida Perez-Dueñas, Belén Sierra, Cristina Urreitzi, Roser Montoya, Julio Serrano, Mercedes Campistol, Jaume García-Cazorla, Angels Pineda, Mercé Artuch, Rafael Producer: 20111004 In: Clinical biochemistry vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. [electronic resource] by Martí, Ramon Nascimento, Andrés Colomer, Jaume Lara, Mari C López-Gallardo, Ester Ruiz-Pesini, Eduardo Montoya, Julio Andreu, Antoni L Briones, Paz Pineda, Mercè Producer: 20101008 In: Pediatric research vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up. [electronic resource] by Pineda, Merce Montero, Raquel Aracil, Asuncion O'Callaghan, Mar M Mas, Ana Espinos, Carmen Martinez-Rubio, Dolores Palau, Francesc Navas, Placido Briones, Paz Artuch, Rafael Producer: 20101104 In: Movement disorders : official journal of the Movement Disorder Society vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain. [electronic resource] by Pajares, Sonia Alcalde, Carlos Couce, Ma Luz Del Toro, Mireia González-Meneses, Antonio Guillén, Encarna Pineda, Mercè Pintos, Guillem Gort, Laura Coll, Ma José Producer: 20120918 In: Molecular genetics and metabolism vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. [electronic resource] by Lucariello, Mario Vidal, Enrique Vidal, Silvia Saez, Mauricio Roa, Laura Huertas, Dori Pineda, Mercè Dalfó, Esther Dopazo, Joaquin Jurado, Paola Armstrong, Judith Esteller, Manel Producer: 20170622 In: Human genetics vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 45 results.