SOCIETY FOR THE STUDY
OF INBORN ERRORS OF METABOLISM

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2021

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

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Additional Information

J Inherit Metab Dis. 2021; 43(4): 726-736 doi.org/10.1002/jimd.12211

 

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2020

2020

Dr R Spiegel
Afula, Israel

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

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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

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Membership of the Society is open to all individuals interested in and willing to support the aims of the Society.

 Membership 2026      User Profile

 

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Society for the Study of Inborn
Errors of Metabolism (SSIEM)
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