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- 2022
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Mark
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population-based study
(
- Contribution to journal › Article
- 2021
-
Mark
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
(
- Contribution to journal › Article
- 2019
-
Mark
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
(
- Contribution to journal › Article
- 2013
-
Mark
Cerebrospinal Fluid Brain Injury Biomarkers in Children: A Multicenter Study
(
- Contribution to journal › Article