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Niemann-Pick Disease
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3.05882352941
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Melissa P. Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children's Hospital at Montefiore, New York City discusses Niemann–Pick diseases, a subgroup of lipid storage disorders called sphingolipidoses in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, lungs, bone marrow, and brain. In the classic infantile type-A variant, a missense mutation causes complete deficiency of sphingomyelinase.

Dr. Wasserstein is an NIH-funded clinical researcher whose work focuses on evaluating the safety and effectiveness of novel treatments for patients with inborn errors of metabolism. Prior to joining CHAM, Dr. Wasserstein was Director of the Program for Inherited Metabolic Diseases at Mount Sinai Health System.

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