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Multisystemic Manifestations of Underlying Metabolic Diseases

Authors: Barbara K. Burton, MD​; Roberto Giugliani, MD, PhD​; Martha Solano, MD​​; Klane K. White, MD, MSc​​Faculty and Disclosures


Posted: 17/05/2022

This educational activity is intended for an international audience of pediatricians, primary care physicians and orthopedists and orthopedic surgeons.

The goal of this activity is for the learner to be better able to better identify clinical manifestations of inborn errors of metabolism, with a particular focus on mucopolysaccharidosis (MPS) IVA and IV and recognize the importance of implementing early treatment in terms of patient outcomes.

Upon completion of this activity, participants will:

  • Have increased knowledge regarding the
    • Identification of clinical manifestations regarding the diffuse compromise of skeletal and nonskeletal structures
  • Have greater competence related to
    • Making a diagnosis early in the life of the patient to design the best treatment approach 

Contents of This CPD Activity 

All sections of this activity are required for credit.

Mucopolysaccharidoses: Classical and Nonclassical Patients

Global overview of newborn screening, with a focus on MPS, particularly MPS IVA and VI
Barbara K. Burton, MD

Clinical Case Scenarios: Differential Diagnosis of MPS vs Other Skeletal Dysplasia

Improve your ability to differentiate MPS IVA and MPS VI from other types of skeletal dysplasia
Klane K. White, MD, MSc

Mucopolysaccharidosis: The Importance of Early Treatment

Learn here about the impact of starting treatment early on patient outcomes
Martha Solano, MD

Mucopolysaccharidosis: Diagnostic Algorithm

Learn here all about diagnostic tools available, from classical to genetic panels
Roberto Giugliani, MD, PhD

Newborn Screening: What is it and How Will it Help the Diagnostic Journey?

Learn about recent developments about newborn screening and how this might impact management of MPS
Barbara K. Burton, MD
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