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Blog

Aug 06
0

PUBLISHED: Mitochondrial function requires NGLY1

By NGLY1.org | CDG, NGLY1 Deficiency, Research and Science | No Comments
Recently published on Pubmed. Mitochondrial respiratory chain (RC) diseases and congenital disorders of glycosylation (CDG) share extensive clinical overlap but are considered to have distinct cellular pathophysiology. Here, we demonstrate...
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Aug 03
0

Registration open for 2018 NGLY1-CDG Scientific and Family Conference

By NGLY1.org | CDG, Events, NGLY1 Community | No Comments
We proudly invite our NGLY1-CDG community to the NGLY1-CDG Scientific and Family Conference on February 23-25, 2018 in San Diego, CA. The 2018 event is co-organized by Sanford Burnham Prebys Medical...
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Jul 06
0

Job Opportunity: Postdoctoral Associate to Study NGLY1 at SBP

By NGLY1.org | CDG, Research and Science | No Comments
Applications are invited for immediate openings for candidates to study the biochemistry and cell biology of a variety of human glycosylation (CDG) and de-glycosylation (NGLY1) disorders at the Sanford Burnham Prebys...
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Jun 07
0

2nd Annual CDG Patient, Parent, Physician meeting

By NGLY1.org | CDG, Events | No Comments
The 2nd Annual Congenital Disorders of Glycosylation (CDG) Patient, Parent, Physician meeting took place in New Orleans in May 9-10, 2017. Amour Fund along with Dr. Morava at Tulane University...
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Mar 28
0

Liam’s NBA Experience with the Celtics

By NGLY1.org | CDG, Rare Disease | No Comments

Heartfelt thanks to the Boston Celtics and Rare & Undiagnosed Network RUN for giving CDG advocate Liam and his family a NBA Experience bringing awareness to the rare disease and…

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Feb 19
0

Journal Article: Prospective phenotyping of NGLY1-CDDG

By NGLY1.org | CDG, NGLY1 Deficiency, Research and Science | No Comments

Recent research in the NGLY1 community has been published on Nature.com.  To read the entire journal article called “JOURNAL ARTICLE: Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation”,…

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Mar 18
0

CDG Family Conference organized by NGLY1.org and CDG CARE

By NGLY1.org | CDG, Events, NGLY1 Families, NGLY1.org, Resources | No Comments
The 2016 CDG Family Conference was organized in collaboration with CDG CARE and the Sanford Burnham Prebys (SBP) Medical Discovery Institute. The conference was held February 27-29th in Del Mar, CA....
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