Showing results (31-40 of 102) with videos related to
Sort By:
Pageof 11
Human Mutation|December 9, 2010
Defining the pathogenicity of creatine deficiency syndromePatricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, et al.Pediatrics|January 25, 2012
Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiencyAngeles Ruiz Gomez, María Luz Couce, Judit Garcia-Villoria, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 27, 2009
Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imagingBelén Pérez-Dueñas, Alberto De La Osa, Antoni Capdevila, et al.Molecular Genetics and Metabolism|February 26, 2008
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patientsAida Ormazabal, Marcus Oppenheim, Mercedes Serrano, et al.European Journal of Human Genetics : EJHG|July 29, 2010
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiencyJudit García-Villoria, Laura Gort, Irene Madrigal, et al.Journal of Inherited Metabolic Disease|June 19, 2013
Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiencyNuria Buján, Angela Arias, Raquel Montero, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 12, 2013
Glutaric aciduria type I: outcome of patients with early- versus late-diagnosisMa Luz Couce, Olalla López-Suárez, Ma Dolores Bóveda, et al.Molecular Genetics and Metabolism|March 8, 2013
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiencyBeatriz Puisac, María Esperanza Teresa-Rodrigo, María Arnedo, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 3, 2013
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)Emmanuel Scalais, Ronit Chafai, Rudy Van Coster, et al.Journal of Inherited Metabolic Disease|April 6, 2023
Exploring genotype-phenotype correlations in glutaric aciduria type 1Imke M E Schuurmans, Bianca Dimitrov, Julian Schröter, et al.Pageof 11