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	1.	Erratum to: 12th international congress of inborn errors of metabolism, 3rd-6th September, 2013. [electronic resource] by Campistol, Jaime Ribes, Antonia Producer: 20150817 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	12th International Congress of Inborn Errors of Metabolism, 3rd-6th September, 2013. [electronic resource] by Campistol, Jaime Ribes, Antonia Producer: 20150512 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Small molecules as therapeutic agents for inborn errors of metabolism. [electronic resource] by Matalonga, Leslie Gort, Laura Ribes, Antonia Producer: 20171207 In: Journal of inherited metabolic disease vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Differential diagnosis of lipoic acid synthesis defects. [electronic resource] by Tort, Frederic Ferrer-Cortes, Xènia Ribes, Antonia Producer: 20171205 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects. [electronic resource] by Arias, Angela Garcia-Villoria, Judit Ribes, Antonia Producer: 20050224 In: Molecular genetics and metabolism vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. [electronic resource] by Cazorla, María R Verdú, Alfonso Pérez-Cerdá, Celia Ribes, Antonia Producer: 20070614 In: Pediatric neurology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Improvement of the cystine measurement in granulocytes by liquid chromatograhy-tandem mass spectrometry. [electronic resource] by García-Villoria, Judit Hernández-Pérez, Jose Maria Arias, Angela Ribes, Antonia Producer: 20130703 In: Clinical biochemistry vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Role of creatine as biomarker of mitochondrial diseases. [electronic resource] by Pajares, Sonia Arias, Angela García-Villoria, Judit Briones, Paz Ribes, Antonia Producer: 20130702 In: Molecular genetics and metabolism vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Lipoic acid biosynthesis defects. [electronic resource] by Mayr, Johannes A Feichtinger, René G Tort, Frederic Ribes, Antonia Sperl, Wolfgang Producer: 20150512 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Neonatal Screening for Inherited Metabolic Diseases in 2016. [electronic resource] by Villoria, Judit Garcia Pajares, Sonia López, Rosa María Marin, José Luis Ribes, Antonia Producer: 20180126 In: Seminars in pediatric neurology vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease. [electronic resource] by Matalonga, Leslie Arias, Angela Coll, María Josep Garcia-Villoria, Judit Gort, Laura Ribes, Antonia Producer: 20150220 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	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)
	13.	Predictive value of combined amniotic fluid proteomic biomarkers and interleukin-6 in preterm labor with intact membranes. [electronic resource] by Cobo, Teresa Palacio, Montse Navarro-Sastre, Aleix Ribes, Antonia Bosch, Jordi Filella, Xavier Gratacós, Eduard Producer: 20090518 In: American journal of obstetrics and gynecology vol. 200 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing. [electronic resource] by Navarro-Sastre, Aleix García-Silva, Maria Teresa Martín-Hernández, Elena Lluch, Montserrat Briones, Paz Ribes, Antonia 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)
	15.	Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient. [electronic resource] by Tort, Frederic Ugarteburu, Olatz Torres, Maria Angeles García-Villoria, Judit Girós, Marisa Ruiz, Angeles Ribes, Antonia Producer: 20170622 In: Pediatrics vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue. [electronic resource] by Font, Aida Tort, Frederic Navarro-Sastre, Aleix Cusí, Victòria García-Villoria, Judit Briones, Paz Ribes, Antonia Producer: 20130225 In: JIMD reports vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. [electronic resource] by Seijo-Martínez, Manuel Navarro, Carmen Castro del Río, Maria Vila, Oscar Puig, Miguel Ribes, Antonia Butron, Mercedes Producer: 20050510 In: Archives of neurology vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Extended ischemia prevents HIF1alpha degradation at reoxygenation by impairing prolyl-hydroxylation: role of Krebs cycle metabolites. [electronic resource] by Serra-Pérez, Anna Planas, Anna M Núñez-O'Mara, Analía Berra, Edurne García-Villoria, Judit Ribes, Antònia Santalucía, Tomàs Producer: 20100629 In: The Journal of biological chemistry vol. 285 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. [electronic resource] by Huemer, Martina Kožich, Viktor Rinaldo, Piero Baumgartner, Matthias R Merinero, Begoña Pasquini, Elisabetta Ribes, Antonia Blom, Henk J Producer: 20160920 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons. [electronic resource] by Matalonga, Leslie Arias, Ángela Tort, Frederic Ferrer-Cortés, Xènia Garcia-Villoria, Judit Coll, Maria Josep Gort, Laura Ribes, Antonia Producer: 20160722 In: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics vol. 12 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 78 results.