Novel mutation in a patient with late onset GLUT1 deficiency syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Brain and Development"
DOI: 10.1016/j.braindev.2016.11.007
Abstract: Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs… read more here.
Keywords: late onset; patient late; deficiency syndrome; onset glut1 ... See more keywords
A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Neuroscience"
DOI: 10.1080/00207454.2017.1380641
Abstract: ABSTRACT Aim of the study: To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Materials and methods: The genomic DNAs… read more here.
Keywords: dehydrogenase; adult patient; patient late; mutation ... See more keywords