Article
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.
Molecular genetics & genomic medicine - 1 Feb 2023
Papi Atefe, Zamani Mina, Shariati Gholamreza, Sedaghat Alireza, Seifi Tahere, Negahdari Samira, Sedighzadeh Sahar Sadat, Zeighami Jawaher, Saberi Alihossein, Hamid Mohammad, Galehdari Hamid
Abstract excerpt
BACKGROUND: Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O- as well as N-glycosylation pathways. CDG patients show a broad spectrum of clinical presentations; many GSD types (PGM1-CDG) have muscle involvement and hypoglycemia....
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