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Blog

Apr 16
0

NGLY1.org welcomes Matthew Fox to our Board of Directors

By admin | NGLY1.org | No Comments
The NGLY1 Foundation (NGLY1.org) is pleased to announce the appointment of Matthew Fox to its Board of Directors. “Matt Fox brings years of experience in finance, biotech, drug development and...
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Apr 05
3

NGLY1 Family Story – Willow H.

By admin | NGLY1 Families | No Comments
Written by Willow's mom, Anna. We noticed Willows development was delayed at three month old. We were told to prepare for at minimum three years of testing, and that we...
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Mar 19
0

Download our new “About NGLY1 Handbook”

By admin | NGLY1 Deficiency, Resources | No Comments
Download our "About NGLY1 Deficiency" handbook today at https://www.ngly1.org/handbook.   This comprehensive booklet includes information on: * Symptoms * Diagnosis * Prognosis * Medical Patient Care * Therapies ... and...
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Mar 11
0

Cristina Might speaks at UAB for Rare Disease Day

By admin | Events, Rare Disease | No Comments
For Rare Disease Day 2018, Cristina Might, president of NGLY1.org, presented at the University of Alabama Birmingham about how the challenges with coordinated care are particularly magnified in cases of...
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Mar 08
2

Updated NGLY1 Deficiency Information on GeneReviews

By admin | NGLY1 Deficiency, Studies | No Comments
New information on NGLY1 Deficiency has been published on the National Center for Biotechnology Information's GeneReviews website.  It contains information on the following topics: Diagnosis Clinical Characteristics Genetically Related (Allelic) Disorders...
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Feb 08
0

Rare NGLY1 Mutation Samples Now Available from Coriell Institute

By admin | Research and Science | No Comments
The Coriell Institute for Medical Research is proud to announce the release of new samples representing N-glycanase deficiency, caused by a mutation on the NGLY 1 gene, also known as...
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Nov 16
0

Cristina Might Speaks to the Rare Disease Caucus

By NGLY1.org | Public Policy, Rare Disease | No Comments
Cristina Might, President of NGLY1.org, spoke on Capitol Hill this week at the Rare Disease Congressional Congress Briefing.  Her presentation focused on genetic testing and sequencing for rare diseases. The Congressional Rare Disease...
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