title: [Advances in biochemistry in the understanding of neurometabolic disorders].
abstract: The progress in the knowledge of neurometabolic diseases is due to the conjunction of innovations in several scientific and technological areas. Our review is focused in the biochemical aspects that we consider should be added systematically in the study of these diseases. 1. Analysis of sialotransferrin isoforms; 2. Analysis of specific acylcarnitines, and 3. Study of purine, pyrimidine and neurotransmitter metabolism.
authors: Institut de Bioquímica Clínica-Corporació Sanitària i CSIC, Barcelona, España. aribes@medicina.ub.es
authors: A
authors: A
authors: Ribes
authors: P
authors: P
authors: Briones
authors: M
authors: M
authors: Rodés
mesh_terms: D001669:Biochemical Phenomena; D001671:Biochemistry; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009422:Nervous System Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics