Language: English 

Duration: 30 minutes 

Topic: MPS, Pediatric Endocrinology

Speaker: Prof. ANA MARIA MARTINS, Clinical Geneticist, Director of the Reference Center in Inborn Errors of Metabolism, Adjunct Professor at the Federal University of Sao Paulo, Brazil


Learning Objectives

  •  Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights

  •  Looking at their main endocrine presenting signs and other signs of MPS

  •  How to avoid the misdiagnosis in practice


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