Articles with "ngly1 patient" as a keyword



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Generation and characterization of NGLY1 patient-derived midbrain organoids

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Published in 2023 at "Frontiers in Cell and Developmental Biology"

DOI: 10.3389/fcell.2023.1039182

Abstract: NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms including global… read more here.

Keywords: derived midbrain; disease; patient; patient derived ... See more keywords