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Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease

Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of lysosomal acid alpha-glucosidase (GAA). The result of the GAA deficiency is a ubiquitous lysosomal and non-lysosomal accumulation of glycogen. The most affected tissues are heart, skeletal muscle, liver,...

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Publicat a:Int J Mol Sci
Autors principals: Hintze, Stefan, Limmer, Sarah, Dabrowska-Schlepp, Paulina, Berg, Birgit, Krieghoff, Nicola, Busch, Andreas, Schaaf, Andreas, Meinke, Peter, Schoser, Benedikt
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7177967/
https://ncbi.nlm.nih.gov/pubmed/32290314
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21072642
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