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- 2024
-
Mark
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
2024) In European Journal of Neurology(
- Contribution to journal › Article
-
Mark
Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibers
(
- Contribution to journal › Article
- 2022
-
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
- 2020
-
Mark
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
(
- Contribution to journal › Article
- 2019
-
Mark
Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients
(
- Contribution to journal › Article
-
Mark
A population-based and case-controlled study of children and adolescents with narcolepsy : Health-related quality of life, adaptive behavior and parental stress
(
- Contribution to journal › Article
-
Mark
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
(
- Contribution to journal › Article
- 2017
-
Mark
Neurologi : Stroke, Huvudvärk
2017) p.346-373(
- Chapter in Book/Report/Conference proceeding › Book chapter
-
Mark
Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease
(
- Contribution to journal › Article