Villa Metabolica - a center of excellence for the diagnosis and treatment of lysosomal storage disorders.
Lysosomal storage disorders are very rare diseases that are characterized by a great variability in their clinical presentation. In order to gain experience in this complex field, a center of excellence must be established that covers all aspects of these conditions such as diagnosis, treatment and research. The Villa Metabolica at the Children's Hospital of the University of Mainz is dedicated to provide diagnosis and multidisciplinary management for all patients affected by any of the about 50 known lysosomal storage disorders. This short communication will give an introduction of the activities of this institution.
Beck
Michael
M
Children's Hospital, University of Mainz, Mainz, Germany. beck@kinder.klinik.uni-mainz.de
D002648:Child; D003299:Cooperative Behavior; D056947:Enzyme Replacement Therapy; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005858:Germany; D006776:Hospitals, Pediatric; D006782:Hospitals, Special; D006785:Hospitals, University; D006801:Humans; D033183:Interdisciplinary Communication; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D010348:Patient Care Team; D012042:Registries