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Lysosomal Storage Disorders Program:
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 Web site.
To schedule an appointment for diagnostic evaluation, medical evaluation and/or genetic counseling please call our clinic secretary or clinic nurse coordinator using the information on the Contact page.
Developmental Neurogenetics Program
Yawkey Center for Outpatient Care
Clinic & Research Coordinator Phone: 617-726-5732
Developmental Neurogenetics ProgramCharles River Plaza, North Building5th Floor, Suite 5240Mailcode: CPZ 185 5-5240Massachusetts General Hospital185 Cambridge StreetBoston, MA 02114
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