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Gene|August 27, 2013
Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiencyC Ortez, C Jou, E Cortès-Saladelafont, et al.Hormone Research|August 14, 1998
Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndromeR Artuch, C Pavía, A Playán, et al.Clinical Biochemistry|April 19, 2011
Assessment of plasma ammonia and glutamine concentrations in urea cycle disordersM Serrano, A Ormazábal, M A Vilaseca, et al.Brain & Development|June 24, 2008
Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatmentT Temudo, M Rios, C Prior, et al.Journal of Inherited Metabolic Disease|October 18, 2008
Arginine supplementation in four patients with X-linked creatine transporter defectC Fons, A Sempere, A Arias, et al.Journal of Inherited Metabolic Disease|April 23, 2003
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type IaP Briones, M A Vilaseca, E Schollen, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 25, 2008
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestationsB Pérez-Dueñas, A García-Cazorla, M Pineda, et al.Molecular Genetics and Metabolism|December 4, 2014
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiencyC Ortez, S T Duarte, A Ormazábal, et al.Molecular Genetics and Metabolism|December 4, 2009
Response to creatine analogs in fibroblasts and patients with creatine transporter deficiencyC Fons, A Arias, A Sempere, et al.Scientific Reports|February 27, 2013
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromasP Sarrión, A Sangorrin, R Urreizti, et al.Pageof 8