Associated Papers
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
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
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.
Würde AE et al.
Molecular Genetics and Metabolism, 2012
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