Expanded Newborn Screening for Pompe Disease and Mucopolysaccharidosis Type 1 | UPMC Children's



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In this webinar, Damara Ortiz, MD, board-certified clinical geneticist and director of the Lysosomal Storage Diseases Clinic at UPMC Children’s Hospital of Pittsburgh, discusses the comprehensive, team approach to management, treatment, and genetic diagnosis of babies with a positive newborn screening result for Pompe disease or MPS1, which have recently been added to the newborn screening panel in many states. Dr. Ortiz is knowledgeable about current and future potential treatment options and clinical trials for patients with Pompe disease and MPS1 and other lysosomal diseases. The presentation is designed to educate parents, families, and caregivers and will be followed by a live question and answer session.
To learn more, please visit https://www.chp.edu/our-services/rare-disease-therapy
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