Tim RJ Aeppli on Muck Rack

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Glycogen storage disease type VI: clinical course and molecular background

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By Daisy Rymen, Gabriella Allegri, Tim RJ Aeppli, Johannes Häberle
| link.springer.com
Original Article First Online: 26 November 2019 Abstract Glycogen storage disease type VI (GSD-VI; also known as Hers disease, liver phosphorylase deficiency) is caused by mutations in the gene coding for glycogen phosphorylase (PYGL) leading to a defect in the degradation of glycogen. Since there are only about 40 patients described in literature, our knowledge about the course of the disease is limited.
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