ABSTRACT
Imaging has an increasing role in the management of patients with inborn errors of
metabolism. This role is related to expensive enzyme replacement therapy that requires
a surrogate biomarker, such as magnetic resonance imaging. This review paper raises
the issue of the potential for metabolic radiology to become a subspecialty.
KEYWORDS
Metabolic radiology - Gaucher's disease - Morquio syndrome
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Mario MaasM.D. Ph.D.
Department of Radiology, University of Amsterdam, Academic Medical Center
Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
Email: m.maas@amc.uva.nl