1. Newborn with Pompe disease. (a) Note severe hypotonia
Newborn with Pompe disease. (a) Note severe hypotonia. (b) Striking cardiomegaly. (c) Muscle biopsy at 2 months old. Note tremendous glycogen stores disrupting muscle fibers. (c: Reproduced, with permission, from Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan JA, Hoganson GE, Phillips JA 3rd, Schaefer GB, Charrow J, Ware RE, Bossen EH, Chen YT. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med Mar-Apr;3(2): )
Source: Metabolism, Medical Genetics: An Integrated Approach
Citation: Schaefer G, Thompson, Jr. JN. Medical Genetics: An Integrated Approach; 2017 Available at: Accessed: October 30, 2017
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