[EIP 2013] Overcoming Challenges in Diagnosis and Care of Patients with Mucopolysaccharide Diseases

Recorded: EIP 2013 ● Language: English ● Duration: 18 minutes Topic: Pediatric Rare Diseases

     
 

Speaker: CHRISTINE LAVERY , Chief Executive, Society for Mucopolysaccharide Diseases, United Kingdom

 
     
  Learning Objectives: At the end of the session participants will understand: (1) Mucopolysaccharidoses comprise a group of inherited disorders characterized by an inability to degrade glycosaminoglycans in lysosomes. (2) Although relatively rare, early diagnosis is essential, allowing genetic counselling, provision of social care information and early start of treatment. (3) Collaborative efforts of paediatricians, geneticists and patient organisations are essential and strategies will be discussed.  
         

 




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