Related Experiment Video
Updated: Jun 13, 2025

10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.0K
Asymptomatic female heterozygous Fabry disease diagnosed through medical check-up
Hiroto Kawamura1, Kazuto Nakamura1, Akira Sato1
1Department of Cardiovascular Medicine, University of Yamanashi, Shimokato 1110, Chuo, Yamanashi 409-3898, Japan.
European Heart Journal
|September 13, 2024
Abstract
No abstract available in PubMed .
More Related Videos
Related Concept Videos
Ultrasound II: Endoscopic Ultrasound and FibroScan
82
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):
82
Pedigree Analysis
84.1K
Overview
84.1K
Genome-wide Association Studies-GWAS
13.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.2K

