Related Experiment Video

Updated: Jun 18, 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

8.2K

Real-World Migalastat Use in Fabry Disease: Comparative Insights From the Pisani and Hughes Studies

Eleonora Riccio1, Antonio Pisani1

  • 1Department of Public Health, Chair of Nephrology, University Federico II of Naples, Naples, Italy.

Journal of Inherited Metabolic Disease
|August 12, 2025
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering
09:43

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering

Published on: November 22, 2019

6.4K
Catheter-based Endovascular Angioplasty for Fibrosing Mediastinitis-associated Pulmonary Vein Stenosis
06:59

Catheter-based Endovascular Angioplasty for Fibrosing Mediastinitis-associated Pulmonary Vein Stenosis

Published on: August 26, 2025

49

Related Experiment Videos

Last Updated: Jun 18, 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

8.2K
Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering
09:43

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering

Published on: November 22, 2019

6.4K
Catheter-based Endovascular Angioplasty for Fibrosing Mediastinitis-associated Pulmonary Vein Stenosis
06:59

Catheter-based Endovascular Angioplasty for Fibrosing Mediastinitis-associated Pulmonary Vein Stenosis

Published on: August 26, 2025

49

Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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

DUAL GIP/GLP-1Ra reduces residual proteinuria in non-diabetic fabry disease.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2026

Zebra bodies recognition by artificial intelligence (ZEBRA): a computational tool for Fabry nephropathy.

Scientific reports·2026

miRquad: first-in-class dPCR multiplex TaqMan™ Advanced clinical research assay for microRNA detection in head and neck cancer.

Journal of experimental & clinical cancer research : CR·2025

Parent, Child, and Provider Perspectives on HPV Vaccination in 4-8-Year-Olds: A Mixed Methods Study.

Journal of cancer education : the official journal of the American Association for Cancer Education·2025

Clinical outcomes in Fabry patients switching to agalsidase beta for renal ineffectiveness of the primary Fabry therapy: a single-centre analysis.

Clinical kidney journal·2025

Is segmental/multifocal onset a distinct presentation of idiopathic adult-onset dystonia?

Journal of the neurological sciences·2025

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.

Journal of inherited metabolic disease·2026

International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).

Journal of inherited metabolic disease·2026

Medicinal Use of Lepidium sativum and Nigella sativa Seeds in North Shewa Zone, Amhara and Oromia Regions, Ethiopia.

BioMed research international·2026

Behavioral treatment of urinary incontinence: a guideline-driven narrative review.

Gynecology and pelvic medicine·2026

Gardenia jasminoides Ellis 70% ethanolic fraction alleviates hyperuricemia by upregulating PPARγ and modulating its downstream urate transporters and anti-inflammatory pathways.

Journal of ethnopharmacology·2026

Naringin Alleviates Ocular Surface Inflammation in Dry Eye Disease by Enhancing Autophagic Flux and Mitigating Oxidative Stress Through Downregulation of the PI3K/AKT/mTOR Pathway.

Experimental eye research·2026

Deciphering the mechanisms of resveratrol in knee osteoarthritis treatment: insights from bioinformatics and experimental validation.

Naunyn-Schmiedeberg's archives of pharmacology·2026

Processing-driven structure-activity relationships of Polygonatum rhizome polysaccharides: From traditional processing to microbial fermentation.

Food research international (Ottawa, Ont.)·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