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
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DOI: 10.1016/j.ymgmr.2018.09.001
Abstract: 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… read more here.
Keywords: glycogen storage; analysis; disease; form ... See more keywords