Associated Papers
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.
Muffels IJJ et al.
Journal of Inherited Metabolic Disease, 2024
Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene.
Lv T et al.
Seizure, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf
DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder.
Mehta S et al.
Journal of Movement Disorders, 2023
Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.
Jiao X et al.
Developmental Medicine and Child Neurology, 2022
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details