Associated Papers
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
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
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Jones MA et al.
Molecular Genetics and Metabolism, 0
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