Lysosomal Storage Disorders Program at Massachusetts General Hospital
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.
- Phone: 617-726-8830
- Access Patient Gateway
- Download referral form
Lysosomal Storage Disease Doctors
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.
For detailed information about diseases, support groups, and more, please visit the Lysosomal Storage Disease Web site.Appointments
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.
Lysosomal Storage Disease Doctors
The Lysosomal Storage Disorders Program at the Massachusetts General Hospital is part of the Developmental Neurogenetics Program, and is also affiliated with Partners Health Care and the Harvard Medical School. For more detailed information about treatments and services, please visit the Neurogenetics Program Web site.
For detailed information about diseases, support groups, and more, please visit the Lysosomal Storage Disease Web site.
Appointments
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.
For detailed information about diseases, support groups, and more, please visit the Lysosomal Storage Disease Web site.
Developmental Neurogenetics Program
Yawkey Center for Outpatient CareYAW-6-6B
32 Fruit Street
Boston, MA 02114
Phone: 617-726-5732
Email: kaburke@partners.org
Public Transportation Access: yes
Disabled Access: yes
Clinic & Research Coordinator: Kellie A. Burke
Phone: 617-726-5732
E-mail: kaburke@partners.org
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
Next Steps:
- Phone: 617-726-8830
- Access Patient Gateway
- Download referral form
