Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay
Author:
Funder
Taipei Veterans General Hospital
Ministry of Science and Technology
Ministry of Science and Technology, Taiwan
Publisher
Elsevier BV
Reference7 articles.
1. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation;Paesold-Burda;Hum. Mol. Genet.,2009
2. Global view of human protein glycosylation pathways and functions;Schjoldager;Nat. Rev. Mol. Cell Biol.,2020
3. Pediatric Endocrinology and Inborn Errors of Metabolism, 2e;Kyriakie Sarafoglou,2017
4. Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function;Climer;Front. Neurosci.,2015
5. COG5-CDG: expanding the clinical spectrum;Rymen;Orphanet J. Rare Dis.,2012
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