Skip to main content

1 Result(s)

within Juan José Ochoa-Amor Remove this filter Neurosciences Remove this filter

and

  1. No Access

    Article

    Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain)

    Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency is an inborn error of neurotransmitter metabolism, with a prevalence of 0.5 per million, caused by mutations/deletions in the GCH1 gene. The f...

    Eduardo López-Laso, Juan José Ochoa-Sepúlveda, Juan José Ochoa-Amor… in Journal of Neurology (2009)