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Updated: May 25, 2025

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患有糖原储存疾病Ib型患者的遗传变异和临床特征

Yu Xia1, Yu Sun1,2, Taozi Du1

  • 1Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

JAMA network open
|February 26, 2025
PubMed
概括

糖原储存疾病Ib型 (GSDIb) 影响葡萄糖代谢,并呈现出各种临床特征,包括感染和炎症性肠病 (IBD). 这项研究扩大了对GSDIb的理解.

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