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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
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
(
- Contribution to journal › Article
-
Mark
Coagulation abnormalities and vascular complications are common in PGM1-CDG
(
- Contribution to journal › Article
- 2023
-
Mark
The Swedish COG6-CDG experience and a comprehensive literature review
(
- Contribution to journal › Article
-
Mark
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
(
- Contribution to journal › Article
- 2020
-
Mark
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
(
- Contribution to journal › Article
- 2019
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Mark
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
(
- Contribution to journal › Article
- 2018
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Mark
DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2017
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Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
(
- Contribution to journal › Article
- 2016
-
Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article