HIGHLIGHTS
- who: March and collaborators from the National Institutes of Health (NIH), United States Josip Juraj Strossmayer University of have published the research: Novel variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report, in the Journal: (JOURNAL)
SUMMARY
Glycogen storage disease type III (GSD-III; OMIM 232400, ORPHA 366) is a rare autosomal recessive hepatic disease in which glycogen abnormally accumulates in the liver. The mutation in the AGL gene, which encodes a glycogen debranching enzyme, is known to cause GSD . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.