相关实验视频

Updated: Jul 6, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.1K

中国的庞培病:临床和分子特征

Jing Li1, Xiaohe Shi1, Bo Wang1

  • 1Department of Ultrasound, Xijing Hospital, Xian, Shaanxi, China.

Frontiers in cardiovascular medicine
|January 1, 2024
PubMed
概括

中国的庞培病 (PD) 呈现出早期发病,严重的心脏问题,以及普遍存在的肌痛症症状. 对心声回声图的全球纵向应变 (GLS) 预测了存活率,并且确定了新的GAA基因突变.

关键词:
中国中国中国中国.庞贝病是庞贝病的一种疾病.超声心电图 (Echocardiography) 是一种心声回声仪.过度缩性心肌病变性心脏病.婴儿发病的庞培病.

更多相关视频

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.1K
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

4.3K

相关概念视频

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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