Novel AGL variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report

Novel AGL variants in a patient with glycogen storage disease type IIIb and pulmonary hypertension caused by pulmonary veno-occlusive disease: A case report

Glycogen storage disease type III (GSD-III) is an autosomal recessive metabolic disorder caused by mutations in the AGL gene, and may develop various types of pulmonary hypertension (PH). Here, we report a case of 24-year-old man with GSD-IIIb with two novel null variants in AGL (c.2308 + 2T>...

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Bibliographic Details
Main Authors: Akito Shindo, Kazutaka Ueda, Shun Minatsuki, Yukiteru Nakayama, Satoshi Hatsuse, Kanna Fujita, Seitaro Nomura, Masaru Hatano, Norifumi Takeda, Hiroshi Akazawa, Issei Komuro
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Genetics
Subjects:
pulmonary hypertension
pulmonary veno-occlusive disease
PVOD
glycogen storage disease
AGL
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1148067/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1148067/full

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