[对10名患有法布里病的患者的临床分析]
1Department of Nephrology, Peking University Shenzhen Hospital, Shenzhen 518036, China School of Medicine, Shenzhen University, Shenzhen 518036, China.
Zhonghua nei ke za zhi
|January 8, 2024
概括
这项研究分析了10名法布里病患者,揭示了各种临床症状,包括皮肤,脏和心脏问题. 通过酶活性,生物标志物和遗传检测进行早期检测对于管理这种罕见的遗传疾病至关重要.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 腎臟病學 (nephrology) 是一種醫學專業.
相关概念视频
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Ultrasound II: Endoscopic Ultrasound and FibroScan
108
Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):
Endoscopic Ultrasound (EUS):
108


