Lysosomal Storage Disorders Program
The Lysosomal Storage Disorders Program is a national and international resource for the diagnostic evaluation of genetic neurodegenerative disorders for both pediatric and adult patients and their families.
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Contact Information
Yawkey Center for Outpatient Care
32 Fruit Street
YAW-6-6B
Boston,
MA
02114
Phone: 617-726-5732
Mailing Address
Developmental Neurogenetics Program
Charles River Plaza, North Building
5th Floor, Suite 5240
Mailcode: CPZ 185 5-5240
Massachusetts General Hospital
185 Cambridge Street
Boston, MA 02114
Clinic & Research Coordinator Phone: 617-726-5732
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.
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.