Results 141 to 146 of about 811 (146)
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GlcNAc-Asn is a biomarker for NGLY1 deficiency
Journal of Biochemistry, 2022William F Mueller +2 more
exaly
NGLY1 deficiency natural history study
Molecular Genetics and MetabolismBernhard Suter +4 more
openaire +1 more source
Physiological importance of NGLY1, as revealed by rodent model analyses
Journal of Biochemistry, 2022Makoto Asahina, Tadashi Suzuki
exaly
NGLY1 deficiency - clinical features and therapeutic strategy
Journal of Human GeneticsHaruhiko Fujihira +2 more
openaire +1 more source
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
Genetics in Medicine, 2017Christina Lam +2 more
exaly
Correction: NGLY1 deficiency - clinical features and therapeutic strategy
Journal of Human GeneticsHaruhiko Fujihira +2 more
openaire +1 more source