ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Glycogen Storage Disease 2
Gene/Gene Panel: GAA
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2023/07/28
Released
1.0.0
P
Morbidity and mortality due to acid alpha-glucosidase deficiency (GroupA)
Evaluation by specialists to guide management including enzyme replacement therapy (GroupA) 9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GAA ⇔ 0009290 GLYCOGEN STORAGE DISEASE II; GSD2
Moderate Actionability
Strong Actionability
2023/01/27
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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