Associated Papers
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV et al.
Neuropathology and Applied Neurobiology, 2023
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.
Özsoy Ö et al.
Molecular Syndromology, 2023
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Ng BG et al.
Jimd Reports, 2019
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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