Create issue ticket

1 Possible Causes for Mixed Cerebellar - Pseudobulbar Dysarthria

  • Ribose-5-Phosphate Isomerase Deficiency

    Mirjam M. C. Wamelink Nana-Maria Grüning Erwin E. W. Jansen Katharina Bluemlein Hans Lehrach Cornelis Jakobs Markus Ralser Original article First Online: 25 May 2010 Abstract Ribose 5-phosphate isomerase (RPI) deficiency is an enzymopathy of the pentose phosphate pathway. It manifests with progressive[…][]

Further symptoms