相关实验视频

Updated: May 12, 2026

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

在法布里病中使用酶替代疗法:一种随机对照试验

R Schiffmann1, J B Kopp, H A Austin

  • 1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bldg 10, Room 3D03, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892-1260, USA. rs4e@nih.gov

JAMA
|June 21, 2001
PubMed
概括

在患有法布里病的患者中,用α-galactosidase A (alpha-gal A) 的酶替代疗法显著降低了神经病痛,改善了功能. 这种静脉注射治疗为管理这种罕见的代谢障碍提供了安全有效的选择.

更多相关视频

Detection of Antibodies That Neutralize the Cellular Uptake of Enzyme Replacement Therapies with a Cell-based Assay07:52

Detection of Antibodies That Neutralize the Cellular Uptake of Enzyme Replacement Therapies with a Cell-based Assay

Published on: September 10, 2018

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine09:54

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine

Published on: November 4, 2018

相关概念视频

Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Extracorporeal Removal of Drugs: Continuous Renal Replacement Therapy01:26

Extracorporeal Removal of Drugs: Continuous Renal Replacement Therapy

Continuous Renal Replacement Therapy (CRRT) is an essential intervention for patients experiencing severe kidney dysfunction. This therapy offers a continuous mechanism for removing fluids and toxins from the bloodstream, leveraging the patient’s blood pressure to facilitate filtration through a specialized filter. This method contrasts with intermittent dialysis, providing a gentler and more consistent removal of waste products and excess fluid, which is particularly beneficial in critically...
Continuous Renal Replacement Therapy01:30

Continuous Renal Replacement Therapy

Continuous Renal Replacement Therapy, also known as CRRT, is a procedural treatment for acute kidney injury (AKI) that gradually removes uremic toxins and fluids while maintaining acid-base balance and stabilizing electrolytes. It is particularly useful for hemodynamically unstable patients. Unlike intermittent hemodialysis, which is faster, CRRT provides a gentler approach over 24 hours, closely mimicking the function of natural kidneys. However, CRRT is not ideal for patients with...