Associated Papers
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.
Özsoy Ö et al.
Molecular Syndromology, 2023
A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.
Hyde LF et al.
International Journal of Molecular Sciences, 2022
DPAGT1-Mediated Protein N-Glycosylation Is Indispensable for Oocyte and Follicle Development in Mice.
Li H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2020
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Ng BG et al.
Jimd Reports, 2019
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Dong YY et al.
Cell, 2018
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.
Ganetzky R et al.
American Journal of Medical Genetics. Part A, 2015
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Finlayson S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Iqbal Z et al.
European Journal of Human Genetics : Ejhg, 2013
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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