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Mucopolysaccharidosis type I (MPS I) is a rare and hereditary metabolic disorder that can in its severest form result in mental retardation, serious bone disease and premature death. Early diagnosis and treatment is associated with a significant improvement in outcomes for MPS I patients. Sandra Kingma investigates the role of phenotype prediction at a very early age. She also focuses on the treatment of bone disease in MPS I patients, for which no effective therapies are available as yet.

Event details of MPS I: early diagnosis and treatment of bone disease
Date 16 September 2015
Time 14:00 -15:00
Location Agnietenkapel
Room Location

S.D.K. Kingma: MPS I: Early Diagnosis, and Treatment of Bone Disease.

Supervisor

F.A. Wijburg

Co-supervisor

N. van Vlies

Agnietenkapel

Room Location

Oudezijds Voorburgwal 229 - 231
1012 EZ Amsterdam

Entrance

This event is open to the public.