Article

Precision genetic cellular models identify therapies protective against endoplasmic reticulum stress

2020-06-04

Abstract excerpt

Congenital disorders of glycosylation (CDG) and deglycosylation (CDDG) are a collection of rare pediatric disorders with symptoms that range from mild to life threatening. They typically affect multiple organ systems and usually present with neurological abnormalities including hypotonia, cognitive impairment, and intractable seizures. Several genes have been implicated in the thirty-six types of CDG, but currentl...

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Literature Corpus work: afb0984b-e22e-5b37-894e-337ef49cf6d7
DOI: 10.1101/2020.06.03.132886

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