(SES-C5-M2) Short Stature and Other Endocrine Presenting Symptoms of Mucopolysaccharidosis - Case Studies

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: (1) Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights (2) Looking at their main endocrine presenting signs and other signs of MPS (3) How to avoid the misdiagnosis in practice  


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