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>C an...

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Detalles Bibliográficos
Autores principales: Shindo, Akito, Ueda, Kazutaka, Minatsuki, Shun, Nakayama, Yukiteru, Hatsuse, Satoshi, Fujita, Kanna, Nomura, Seitaro, Hatano, Masaru, Takeda, Norifumi, Akazawa, Hiroshi, Komuro, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10078958/
https://www.ncbi.nlm.nih.gov/pubmed/37035733
http://dx.doi.org/10.3389/fgene.2023.1148067

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10078958/
https://www.ncbi.nlm.nih.gov/pubmed/37035733
http://dx.doi.org/10.3389/fgene.2023.1148067

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