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  • What is NGLY1?
    • Symptoms
    • Diagnosis
    • Prognosis
  • Family Support
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  • Healthcare Professionals
    • Patient Care – Support
    • Patient Care – Medical
    • NGLY1 Handbook
  • Research
    • Genetics and Pathway
    • Protocol Collaboration at the NIH
    • Samples available from Coriell
    • Research Journal Articles
  • Contact Us
  • Newsletter
  • Blog
  • What is NGLY1?
    • Symptoms
    • Diagnosis
    • Prognosis
  • Family Support
  • Healthcare Professionals
    • Patient Care – Medical
    • Patient Care – Support
  • Research
    • Genetics and Pathway
    • Protocol Collaboration with the NIH
    • Samples available from Coriell

Research Journal Articles

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

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P.O. Box 38832
Colorado Springs, CO 80937
info@cdgcare.org
+1 (866) 295-7910

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