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Tools and resources for you, the healthcare provider, to expand your knowledge and understanding of Pompe disease.
Diagnostic algorithm for infantile-onset Pompe disease
Diagnostic algorithm for late-onset Pompe disease
Genetics and Pompe disease
Testing for Pompe Disease
National Alliance for Caregiving
National Organization for Rare Disorders, Inc. (NORD)
Office of Rare Diseases at the National Institutes of Health
Center for Parent Information and Resources
Family Caregiver Alliance
National Caregivers Library
National Family Caregivers Association
Parent to Parent (P2P) USA
Well Spouse Association
The Center for Information and Study on Clinical Research Participation
Know Your Genes
National Society of Genetic Counselors
Acid Maltase Deficiency Association
Association for Glycogen Storage Disease
International Pompe Association
Muscular Dystrophy Association
United Pompe Foundation
The diagnosis of Pompe disease is confirmed by the lack/deficiency of GAA enzyme in tissues and genetic mutational analysis of the GAA gene. Find U.S. Testing Laboratories here.
Call +1(800) 745-4447
And select option 2
NOT SURE IT's POMPE?