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Updated: Sep 13, 2025

08:42
Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
Published on: July 3, 2020
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低酸症:一个病例报告
Angad Singh Gill1,2, Pallavi Sharma1,2, Mahmoud Nassar1,3
1Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY 14221, United States.
World journal of clinical cases
|July 29, 2025
概括
低酸盐症 (HPP) 是一种罕见的疾病,导致酸酶活性较低,导致骨问题. 通过基因检测和酶替代疗法进行早期诊断可以改善HPP患者的结果.
科学领域:
- 内分泌学 在内分泌学.
- 代谢障碍 代谢障碍 代谢障碍
- 遗传学 是一个遗传学.
背景情况:
- 低酸盐症 (HPP) 是一种罕见的遗传代谢障碍,其特征是缺少组织非特异性酸酶 (ALP) 活性.
- 症状范围从骨脱矿化和骨异常到过早的牙脱落,影响多个器官系统.
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