PD

Specific domains of interest and research: creating awareness and screening for inherited metabolic diseases in the neonatal period and in populations at risk ; organic acidurias; lysosomal storage diseases (innovative therapies); learning and cognitive disturbances due to inherited metabolic diseases; psychiatric disturbances as first clinical presentation of inherited metabolic diseases.

Since December 2016 Poll-The is an emeritus professor who continues doing research on peroxisomal disorders as well as following the patients affected by peroxisomal disorders.

Within MetabERN, I am a patient representative contact person for the PD subnetwork.