NGLY1 deficiency: Novel variants and literature review.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104146
Abstract: NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is… read more here.
Keywords: ngly1 deficiency; deficiency novel; variants literature; novel variants ... See more keywords