Newborn with Pompe disease. (a) Note severe hypotonia

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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. 2001 Mar-Apr;3(2):132-138.) Source: Metabolism, Medical Genetics: An Integrated Approach Citation: Schaefer G, Thompson, Jr. JN. Medical Genetics: An Integrated Approach; 2017 Available at: https://accessmedicine.mhmedical.com/DownloadImage.aspx?image=/data/books/2247/schaefer_ch8_f009c-1.png&sec=173744698&BookID=2247&ChapterSecID=173744630&imagename= Accessed: October 30, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved