Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland

Pompe disease is estimated to happen in 1 out of 40 000 borns. It is rare metabolic disease connected to autosomal recessive genetic mutation. Disease is characterised by deficit of α-glucosidase (GAA) which is lysosomal glycogen hydrolizing enzyme acid. Decreased activity of enzyme leads to glycoge...

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Main Authors: Dominika Anna Janeczko (Author), Anna Orzeł (Author), Barbara Klatka (Author), Magdalena Hołowczuk (Author), Grzegorz Szlichta (Author)
Format: Book
Published: Kazimierz Wielki University, 2019-09-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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