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Journal of Medical Genetics|March 24, 2009
Mutations in the urocanase gene UROC1 are associated with urocanic aciduriaC Espinós, M Pineda, D Martínez-Rubio, et al.Journal of Inherited Metabolic Disease|March 26, 2009
Creatine transporter deficiency in two adult patients with static encephalopathyA Sempere, C Fons, A Arias, et al.Clinical Genetics|June 30, 2010
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuriaC Espinós, A García-Cazorla, D Martínez-Rubio, et al.Data in Brief|April 8, 2016
Dataset reporting BCKDK interference in a BCAA-catabolism restricted environmentI Bravo-Alonso, A Oyarzabal, M Sánchez-Aragó, et al.Biochimica Et Biophysica Acta|January 26, 2016
Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autismA Oyarzabal, I Bravo-Alonso, M Sánchez-Aragó, et al.Biofactors (Oxford, England)|July 29, 2006
Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disordersR Montero, R Artuch, P Briones, et al.Journal of Inherited Metabolic Disease|September 22, 2009
Secondary disorders of glycosylation in inborn errors of fructose metabolismE Quintana, L Sturiale, R Montero, et al.Cerebellum (London, England)|October 21, 2011
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia)M Casado, M M O'Callaghan, R Montero, et al.Neuropediatrics|December 7, 2007
Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndromeV T Ramaekers, J M Sequeira, R Artuch, et al.JIMD Reports|February 23, 2013
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsB Pérez, P Briones, D Quelhas, et al.Pageof 8