2021
Prof Laurence Bindoff
Bergen, Norway
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Download Publication
Additional Information
J Inherit Metab Dis. 2021; 43(4): 726-736 doi.org/10.1002/jimd.12211
2020
Dr R Spiegel
Afula, Israel
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
Download Publication
Additional Information
J Inherit Metab Dis. 2019; 42(2): 264-275 doi: 10.1002/
Epub 2018 Mar 8; 2018 Jul;41(4):689-698. doi: 10.1007/s10545-018-0157-4