Congenital disorder of glycosylation type II: Case report
نویسندگان
چکیده
منابع مشابه
Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report
BACKGROUND Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs. Cardiac abnormalities vary greatly in congenital disorder of glycosylation type 1a and congenital heart defects have already been reported, but ther...
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The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates intraGolgi trafficking and the integrity of the Golgi compartment in eukaryotic cells. Here, we describe a patient with a mild form of congenital disorder of glycosylation type II (CDG-II) that is caused by a deficiency in the Cog1 subunit of the complex. This patient has a defect in both N- and O-glycosyla...
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ژورنال
عنوان ژورنال: The annals of clinical and analytical medicine
سال: 2021
ISSN: ['2667-663X']
DOI: https://doi.org/10.4328/acam.20376