Skip to main content

2 Result(s)

within Modesto Orozco Remove this filter Medicine & Public Health Remove this filter

and

  1. Article

    Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

    Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degen...

    Christiane Busquets, Begoña Merinero, Ernst Christensen… in Pediatric Research (2000)

    Download PDF (799 KB) View Article

  2. Article

    Open Access

    Epigenetic loss of RNA-methyltransferase NSUN5 in glioma targets ribosomes to drive a stress adaptive translational program

    Tumors have aberrant proteomes that often do not match their corresponding transcriptome profiles. One possible cause of this discrepancy is the existence of aberrant RNA modification landscapes in the so-call...

    Maxime Janin, Vanessa Ortiz-Barahona, Manuel Castro de Moura… in Acta Neuropathologica (2019)

    Download PDF (8049 KB) View Article