In our discussions with state public health laboratories, Baebies has observed confusion and ambiguity on the difference between Infantile Onset Pompe disease and Late Onset Pompe disease. We interviewed world-renowned expert on Pompe disease, Dr. Priya Kishnani, to disseminate insights into the clinical manifestations of Infantile Onset Pompe disease and Late Onset Pompe disease and to elucidate the significance of newborn screening for Pompe disease to public health laboratories who may be interested in adding Pompe disease to their screening panels. Dr. Kishnani is Division Chief of Medical Genetics and Director of the Y.T. and Alice Chen Pediatric Genetics and Genomics Research Center at Duke University Medical Center (DUMC). She also serves as Director of the Lysosomal Storage Disease Program, Biochemical Genetics Training Program and Metabolic Clinic at DUMC.
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