Molecular diagnosis of Glycogen Storage disease type IX using a Glycogen Storage disease gene panel
收藏Mendeley Data2023-01-27 更新2024-06-26 收录
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资源简介：
Hypoglycemia, hyperlactacidemia, hypertriglyceridemia, hyperuricemia, liver fibrosis on liver biopsy, and short stature was found in 30%, 56%, 100%, 60%, 80% and 50% of the children, respectively. Seven PHKA2 variants were identified in eight children with GSD IXa—one nonsense (p.Asp757Ter), two splicing (c.918+1G>A, c.718-2A>G), one frameshift (p.Asp136ProfsTer11), and three missense variants (p.Gly1210Arg, p.Glu415Asp, and p.Arg916Trp). Two variants of PHKG2 were identified in two children with GSD IXc—one frameshift (p.Ser262AlafsTer6) and one missense (p.Val221Met). Elevated liver enzymes and hypertriglyceridemia in children with GSD IXa tended to improve with age.
创建时间：
2019-10-20
