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Bratislava Medical Journal Vol.116, No.8, p.502–505, 2015 |
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Title: Late onset form of Pompe disease | ||
Author: S. Mattosova, A. Hlavata, P. Spalek, L. Kotysova, D. Macekova, J. Chandoga | ||
Abstract: BACKGROUND: Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by deficiency in lysosomal enzyme α-glucosidase.
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Keywords: Pompe disease, α-glucosidase, GAA gene | ||
Published online: 24-Aug-2015 | ||
Year: 2015, Volume: 116, Issue: 8 | Page From: 502, Page To: 505 | |
doi:10.4149/BLL_2015_097 |
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