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Updated: Sep 13, 2025

The Extraction of Liver Glycogen Molecules for Glycogen Structure Determination
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在沙特阿拉伯肝脏糖原储存疾病的临床和分子特征

Abdulrahman Al-Hussaini1,2,3, Mohammed AlMannai4,5, Muhannad Alruwaithi1

  • 1Division of Pediatric Gastroenterology, Children's Specialized Hospital, King Fahad Medical, City Riyadh, Saudi Arabia.

PloS one
|July 31, 2025
PubMed
概括

这项研究描述了沙特儿童的肝脏糖原储存疾病 (GSD),发现大多数亚型呈现严重的表型. 识别常见的GSD基因变异有助于未来的分子诊断.

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