Research and Medical Journal Articles
- Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency, March 2018
- Gene Reviews update – February 2018: comprehensive review of NGLY1
- Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease, July 2017
- Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation, February 2017
- The cytoplasmic peptide:N-glycanase (NGLY1) — Structure, expression and cellular functions, February 2016
- A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts, August 2015
- Multi-Systemic Involvement in NGLY1-Related Disorder Caused by Two Novel Mutations, February 2015
- Endo-β-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells, January 2015
- Mutations in NGLY1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation (ERAD) Pathway, November 2014
- Clinical application of exome sequencing in undiagnosed genetic conditions, 2012
- Pubmed listing of all NGLY1-related articles