Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Article ID	Journal	Published Year	Pages	File Type
10833687	Molecular Genetics and Metabolism	2012	8 Pages	PDF

Abstract

âº Autopsy studies are important in understanding the systemic effects of LOPD. âº Multiple organ involvement is evident in LOPD, correlating with clinical findings. âº Histologic quantification of glycogen may be a useful biomarker of ERT response.

Keywords

LOPD FDA GAA FEV1 FVC Acid α-glucosidase periodic acid–Schiff Late-onset Pompe disease Pompe disease forced expiratory volume in one second Organ involvement CNS Food and Drug Administration Centimeters central nervous system Systemic forced vital capacity liter Electron microscopy PAS Units Pathology Autopsy kilograms grams

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Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Authors

Lisa D. Hobson-Webb, Alan D. Proia, Beth L. Thurberg, Suhrad Banugaria, Sean N. Prater, Priya S. Kishnani,