Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

BACKGROUND: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include non-progressive form (NP-GSD IV) and adult po...

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Detalles Bibliográficos
Autores principales: Iijima, Hiroyuki, Iwano, Reiko, Tanaka, Yukichi, Muroya, Koji, Fukuda, Tokiko, Sugie, Hideo, Kurosawa, Kenji, Adachi, Masanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140619/
https://www.ncbi.nlm.nih.gov/pubmed/30228975
http://dx.doi.org/10.1016/j.ymgmr.2018.09.001

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