Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency
Keywords: نیکل گلیکاناز; N-glycanase; Glycosylation; N-glycanase deficiency; NGLY1; Oligosaccharide screening; Biochemical screening; Biomarker identification; NGLY1; N-glycanase; MALDI-TOF; matrix assisted laser desorption time of flight; CDG; congenital disorder of glycosylatio