Overview

In addition to evaluation and diagnosis, specialized care is delivered to patients and families with lysosomal storage disorders, including Fabry, Gaucher, Pompe, MPS, Mucolipidosis IV, and Neuronal Ceroid Lipofucsinoses (NCL) diseases.

Clinical care and participation in clinical research are aimed at better characterizing the phenotypic variability and natural history of these disorders and in the evaluation of therapies including enzyme replacement therapy and small molecules. Genetic counseling is also an area of expertise. For more detailed information about treatments and services, please visit the Neurogenetics Program.

Appointments

To schedule an appointment for diagnostic evaluation, medical evaluation and/or genetic counseling please call our clinic secretary or clinic nurse coordinator at 617-726-573.