Trusted Resources: People & Places
Online groups, photo galleries and blogs
Mass General – Lysosomal Storage Disorders ProgramDevelopmental Neurogenetics Program
Charles River Plaza, North Building
5th Floor, Suite 5240
Massachusetts General Hospital
185 Cambridge Street
Boston, Massachusetts, United States
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.
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.
Europe Grants Orphan Drug Status to JR-441, ERT for Sanfilippo AThe European Commission has granted an o...
Surgical Management of an Aortic Root Dilatation in a Patient Suffering From Hunter SyndromeHunter syndrome is a rare disease leadin...
Fetal Therapies and Trials for Lysosomal Storage Diseases: A Survey of Attitudes of Parents and PatientsLysosomal storage diseases (LSDs) are in...
Are You Considering Stem Cell Transplantation? Questions to Ask Your ProviderStem cell transplantation can be an over...
University of Minnesota – Mucopolysaccharidosis (MPS) CenterOur MPS Center is internationally recogn...
The Surgical Management of Spinal Disorders in Lysosomal Storage Diseases: A Systematic ReviewThe skeletal manifestations of lysosomal...
A Guide to Understanding MPS IV (Morquio Syndrome)Mucopolysaccharidosis IV (MPS IV) is a r...