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没有可检测的多糖体的IV型糖原储存疾病:广泛基因组的重要性

Agata Oliwa1, Gavin Langlands2, Anna Sarkozy3

  • 1Undergraduate Medical School, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

Neuromuscular disorders : NMD
|August 19, 2023
PubMed
概括

由GBE1基因突变引起的第四类葡萄糖储存疾病 (GSD IV),可以在没有典型的多糖体的情况下出现. 这项研究扩大了对GSD IV的理解.

关键词:
在GBE1中,GBE1是GBE1的.第四个GSD GSD糖原分支酶 1 糖原分支酶 1 糖原分支酶葡萄糖储存疾病类型IV肢体腰带的弱点 肢体腰带的弱点多糖体是多糖体的一个组成部分.多葡萄糖体肌肉病变 - 身体肌肉病变

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