1. Novel Insights into a Rare Disorder

Novel Insights into a Rare Disorder

Joanne Trinh, Phd 1 Sophie Imhoff 1 Marija Dulovic Mahlow 1 Krishna Kumar Kandaswamy, PhD 2 Vera Tadic, MD 1 Jochen Schäfer 3 Valerija Dobricic, PhD 1 Achim Nolte 1 Martin Werber 2 Prof. Arndt Rolfs, MD 2 Alexander Münchau, MD 1 Prof. Christine Klein, MD 1 Katja Lohmann, PhD 1 Norbert Brüggemann, MD 1
1 University of Luebeck 2 CENTOGENE AG 3 University Hospital Dresden
November 20, 2019

Novel NAXE variants as a cause for neurometabolic disorder: Implications for treatment

A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly contribute on multiple levels. This is exemplified by a recent corresponding study in the Journal of Neurology