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About Us
History
Mission
Board Members, Volunteers, and Staff
Scientific and Medical Advisory Board
Report: 15 Years of Progress
News Releases
Newsletter Archive
What is APBD
What is APBD?
Signs and Symptoms
APBD Symptom Checker
Brochure
Testing Info
APBD and GSD IV Guideline
Diagnosed
Newly Diagnosed?
APBD and the Deep Intronic GBE1 Gene Mutation
Navigating a Presymptomatic Diagnosis
Create your Clinical Research ID
Health Care Providers Directory
Personal Narratives
Natural History Study
Patient Registry
NORD Living Rare Study
Research
State of the Science
Publications
Research Highlights
Past Grant Recipients
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Get Connected
Sign up for Newsletter
Interested in Volunteering?
Contact Us
Events
Patient Chat
Family/ Caregiver Chat
Scientific Conferences
Patient Listening Sessions with the FDA
Workshops
APBD Tour de Friends Rally for Research
Rare Disease Day
Other Events
Ways to Give
Donate Now
Tribute and Memorial Gifts
Recurring Donations
APBD Planned Giving Program
Make a Gift with IRA
DONATE
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Folder:
About Us
Back
History
Mission
Board Members, Volunteers, and Staff
Scientific and Medical Advisory Board
Report: 15 Years of Progress
News Releases
Newsletter Archive
Folder:
What is APBD
Back
What is APBD?
Signs and Symptoms
APBD Symptom Checker
Brochure
Testing Info
APBD and GSD IV Guideline
Folder:
Diagnosed
Back
Newly Diagnosed?
APBD and the Deep Intronic GBE1 Gene Mutation
Navigating a Presymptomatic Diagnosis
Create your Clinical Research ID
Health Care Providers Directory
Personal Narratives
Natural History Study
Patient Registry
NORD Living Rare Study
Folder:
Research
Back
State of the Science
Publications
Research Highlights
Past Grant Recipients
Q&A interviews
Folder:
Get Connected
Back
Sign up for Newsletter
Interested in Volunteering?
Contact Us
Folder:
Events
Back
Patient Chat
Family/ Caregiver Chat
Scientific Conferences
Patient Listening Sessions with the FDA
Workshops
APBD Tour de Friends Rally for Research
Rare Disease Day
Other Events
Folder:
Ways to Give
Back
Donate Now
Tribute and Memorial Gifts
Recurring Donations
APBD Planned Giving Program
Make a Gift with IRA
DONATE
Deep Intronic Mutation
Nov 25
Written By
Gabriel Baril
Gabriel Baril
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