Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG
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DOI: 10.1515/jpem-2022-0641
Abstract: Abstract Objectives Congenital Glycosylation Disorders (CDG) are a large group of inherited metabolic diseases with multi-organ involvement. Herein, we aimed to expand the clinical characteristics of patients with CDG based on our experience with diagnoses… read more here.
Keywords: cdg; srd5a3 cdg; dpm1; dpagt1 ... See more keywords