Gaucher Disease Type 3Symptoms, Doctors, Treatments, Advances & More
Gaucher Disease Type 3 Overview
Learn About Gaucher Disease Type 3
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Texas Neurology, P.A.
Dr. Schiffmann is a renowned expert on neurometabolic diseases. He earned his medical degree from the University of Liège, Belgium and a Master of Health Sciences in Clinical Research from Duke University. He is board-certified in Neurology with a Special Qualification in Child Neurology and is a Fellow of the American Academy of Neurology. Dr. Schiffmann was a lead researcher at the United States National Institutes of Health in Bethesda, Maryland for over 17 years (1991-2007) and then the Director of the Institute of Metabolic Disease at the Baylor Scott & White Research Institute in Dallas, Texas, 2008-2019. Dr. Schiffmann is a Professor in the Department of Internal Medicine, Texas Christian University and a Clinical Professor, Texas A&M University Medical School College of Medicine. He is also a Senior Vice President for Clinical Research at 4D Molecular Therapeutics. Dr. Schiffmann has been performing pre-clinical and clinical research on lysosomal storage diseases since 1991 with a special focus on the natural history, pathogenesis and therapy of Fabry disease, Gaucher disease and the leukodystrophies. One of his particular interests and areas of expertise is to address patients with undiagnosed neurological diseases. Dr. Schiffmann has published 276 peer-reviewed research articles and over 15 book chapters. Dr. Schiffmann is rated as an Elite provider by MediFind in the treatment of Gaucher Disease Type 3. His top areas of expertise are Gaucher Disease Type 3, Fabry Disease, Gaucher Disease, and Leukodystrophy.
Radiology And Biomedical Imaging-New Haven-Yale Physicians Building
Pramod Mistry is an Internal Medicine provider in New Haven, Connecticut. Dr. Mistry is rated as an Elite provider by MediFind in the treatment of Gaucher Disease Type 3. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Gaucher Disease Type 3, Gaucher Disease Type 2, and Splenectomy.
Ellen Sidransky is a Medical Genetics provider in Bethesda, Maryland. Dr. Sidransky is rated as an Elite provider by MediFind in the treatment of Gaucher Disease Type 3. Her top areas of expertise are Gaucher Disease, Gaucher Disease Type 2, Gaucher Disease Type 3, and Farber Lipogranulomatosis.
Summary: Recent studies have has shown that magnetic resonance spectroscopy (MRS) can provide validated neuronal markers in patients with Type 1 GD (GD1) who are on stable therapy. However, alterations in neurometabolites in adult patients with GD3, who have established neurological involvement, are not well understood. The goal of this study is to characterize neurometabolite profiles in adult patients wi...
