Related Experiment Video

Updated: Jun 20, 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

A successful screening for Fabry disease in a Chinese dialysis patient population

Y L Lv, W M Wang, X X Pan

    Clinical Genetics
    |September 10, 2009
    PubMed
    Abstract

    No abstract available in PubMed .

    More Related Videos

    Screening and Identification of Small Peptides Targeting Fibroblast Growth Factor Receptor2 using a Phage Display Peptide Library
    07:32

    Screening and Identification of Small Peptides Targeting Fibroblast Growth Factor Receptor2 using a Phage Display Peptide Library

    Published on: September 30, 2019

    Related Experiment Videos

    Last Updated: Jun 20, 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

    Screening and Identification of Small Peptides Targeting Fibroblast Growth Factor Receptor2 using a Phage Display Peptide Library
    07:32

    Screening and Identification of Small Peptides Targeting Fibroblast Growth Factor Receptor2 using a Phage Display Peptide Library

    Published on: September 30, 2019

    Related Concept Videos

    Ultrasound II: Endoscopic Ultrasound and FibroScan01:25

    Ultrasound II: Endoscopic Ultrasound and FibroScan

    Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
    Endoscopic Ultrasound (EUS):
    Dialysis01:27

    Dialysis

    Renal failure occurs when the kidneys lose their ability to filter waste products from the blood effectively. It can be classified into two types: acute renal failure (ARF) and chronic renal failure (CRF).
    Acute kidney injury develops suddenly and can be caused by pre-renal causes (e.g., hypovolemia, shock), intrinsic renal causes (e.g., acute tubular necrosis), or post-renal causes (e.g., urinary obstruction). In contrast, chronic renal failure progresses gradually over time and is often...
    Hemodialysis I: Introduction01:25

    Hemodialysis I: Introduction

    Hemodialysis (HD) is a medical treatment that artificially removes waste products, excess fluids, and toxins from the blood when the kidneys are no longer able to perform these functions effectively. In this process, blood is filtered through a semipermeable membrane, allowing for the selective removal of waste while preserving necessary components like blood cells and proteins. Hemodialysis is typically performed in patients with end-stage renal disease (ESRD) or severe kidney...

    Articles linked to this work by shared authors, journal, and citation graph.

    Continuous treatment with nicotine increases diazepam binding inhibitor (DBI) and its mRNA in the mouse brain.

    Brain research. Molecular brain research·1998

    Upregulation of pleiotrophin gene expression in developing microvasculature, macrophages, and astrocytes after acute ischemic brain injury.

    The Journal of neuroscience : the official journal of the Society for Neuroscience·1998

    Dynamic cross-linking by alpha-actinin determines the mechanical properties of actin filament networks.

    The Journal of biological chemistry·1998

    Does weather confound or modify the association of particulate air pollution with mortality? An analysis of the Philadelphia data, 1973-1980.

    Environmental research·1998

    Mechanical properties of actin filament networks depend on preparation, polymerization conditions, and storage of actin monomers.

    Biophysical journal·1998

    Screening for overlapping bacterial artificial chromosome clones by PCR analysis with an arbitrary primer.

    Proceedings of the National Academy of Sciences of the United States of America·1998

    Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

    Clinical genetics·2026

    A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

    Clinical genetics·2026

    Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

    Clinical genetics·2026

    Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

    Clinical genetics·2026

    Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

    Clinical genetics·2026

    Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

    Clinical genetics·2026

    A Case Report of a Novel Myelin Protein Zero (MPZ) Pathogenic Variant in Charcot-Marie-Tooth Disease Combined With Type 2 Diabetes.

    Case reports in genetics·2026

    Intestinal Malrotation With Chronic Midgut Volvulus, Chylous Ascites, and Severe Malnutrition in an Adolescent: A Case Report.

    Clinical case reports·2026

    From Kitchen to Clinic: Study protocol for a family-centered, food-as-medicine approach using medically tailored meals and caregiver coaching in pediatric oncology care.

    Contemporary clinical trials communications·2026

    Case Report: Motivational ambivalence and family dynamics in severe adolescent anorexia nervosa treated in a Mexican multidisciplinary setting.

    Frontiers in psychology·2026

    Alterations in gut microbiota among maintenance hemodialysis patients with CKD-associated pruritus: a cross-sectional comparative study of two cohorts.

    Frontiers in cellular and infection microbiology·2026

    Effects of intradialytic nutrition on dialysis adequacy and fatigue in hemodialysis patients: a randomized crossover study.

    Revista da Escola de Enfermagem da U S P·2026
    See all related articles
    JoVE
    x logofacebook logolinkedin logoyoutube logo
    ABOUT JoVE
    OverviewLeadershipBlogJoVE Help Center
    AUTHORS
    Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
    LIBRARIANS
    TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
    RESEARCH
    JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
    EDUCATION
    JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
    Terms & Conditions of Use
    Privacy Policy
    Policies
    Jove
    Visualize
    Contact Us