Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran

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...

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Detalles Bibliográficos
Autores principales: Papi, Atefe, Zamani, Mina, Shariati, Gholamreza, Sedaghat, Alireza, Seifi, Tahere, Negahdari, Samira, Sedighzadeh, Sahar Sadat, Zeighami, Jawaher, Saberi, Alihossein, Hamid, Mohammad, Galehdari, Hamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938746/
https://www.ncbi.nlm.nih.gov/pubmed/36579437
http://dx.doi.org/10.1002/mgg3.2099

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