Related Experiment Video
Updated: Jul 3, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
[Inherited metabolic diseases in adults : from diagnosis to treatment]
Despina-Christina Pavlidou1, Christel Tran1
1Service de médecine génétique, Centre hospitalier universitaire vaudois, 1011 Lausanne.
Abstract:
Inherited metabolic diseases are genetic diseases that are individually rare but collectively common. Although they are classically considered as pediatric diseases, many patients are seen in adulthood, either due to a misdiagnosis over several years or a late initial presentation. A diagnosis in adulthood is crucial because it can lead to the implementation of specific treatments that improve patients' quality of life. Once a diagnosis is made, specialized genetic counseling helps identify and potentially treat other at-risk family members.
Related Concept Videos
Inborn Errors of Metabolism
Diabetes: Symptoms, Diagnosis, and Complications
Pharmacokinetics in Pediatric Patients: Drug Metabolism
Chronic Kidney Disease III: Interprofessional Care
Chronic Kidney Disease I: Introduction
Type II Diabetes I: Introduction

