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- 2024
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Mark
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
2024) In European Journal of Neurology(
- Contribution to journal › Article
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Mark
Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibers
(
- Contribution to journal › Article
- 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
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Mark
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
(
- Contribution to journal › Article
- 2020
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Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
(
- Contribution to journal › Article