Recorded: EIP 2013 ● Language: English ● Duration: 15 minutes ● Topic: Pediatric Rare Diseases

     
 

Speaker: CHARLES MARQUES LOURENCO, Brazil

  
     
  Learning Objectives: At the end of the session participants will: (1) Summarize current diagnostic methods for patients with mucopolysaccharidosis (MPS) and related disorders (2) Describe the main diagnostic challenges in recognizing the multi-system nature of the MPS and the role of the physician in the diagnostic paradigm (3) Identify key laboratory pitfalls in the investigation of patients with suspicion of MPS (4) Assess case studies inclusive of patients and the diagnostic approaches