Deficiency of N-glycanase 1

Where To Start has developed a handbook for patients, families and healthcare providers entitled "About NGLY1 Deficiency." is a foundation dedicated to NGLY1 deficiency research, awareness and support.

Last updated on 04-27-20

Name: CDG CARE PO Box 38832
Colorado Springs, CO, 80937,
Toll Free: (866) 295-7910 Email: Url:
Name: Grace Science Foundation Url: Contact form:
Name: 175 S Main Street, Ste 500
Salt Lake City, UT, 84111,
Phone: (650) 646-4591 Email: Url:
Name: Portugese Association for CDG and other Rare Metabolic Diseases APCDG-DMR Url:
Enns GM & cols. Mutations in NGLY1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation (ERAD) Pathway Genet Med. 10/2014; 16(10). 751–758. Reference Link Need AC & cols. Clinical application of exome sequencing in J Med Genet. 06/2012; 49(6). 353-361.

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