We are a medical home and provide comprehensive medical care for individuals with various LSDs nationwide and internationally. For patients of all ages, we offer:

• Genetics testing
• Coordination of treatment via enzyme replacement therapy (ERT) and other approved therapies
• Participation in research studies and disease registries
• Coordination of multidisciplinary care
• Continuity of care and long term follow-up
• Support and education for patients and their families
• Clinical identification and biochemical and molecular diagnoses for LSDs
• In-house treatment with different enzyme replacement products
• Management of patients who cannot tolerate ERT due to immune reactions and neutralizing antibodies

In our Rare Disease Clinic, we offer extensive medical genetic evaluations for complex medical problems of unknown etiology and that do not fit a particular disease pattern. Our clinical evaluation begins with an experienced provider who takes a detailed medical history and an extensive three generation family history. Then, a comprehensive physical exam, including a detailed dysmorphology, and neurological examination, is followed by “traditional tier-wise” genetic testing and directed molecular or cytogenetic testing.