The Leukodystrophies Hannah B. Gordon, BA1 Anthea Letsou, PhD1 Joshua L. Bonkowsky, MD, PhD2,3 1Department of Human Genetics, University of Utah School of Medicine, Salt
GUIDELINES Introduction Glycogen storage disease type II or Pompe disease (OMIM Entry # 232300), also referred to as acid maltase deficiency, is a rare lysosomal storage