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Pompe disease: what are we missing?

Pompe disease is a multisystemic metabolic disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA) leading to progressive accumulation of lysosomal glycogen, lysosomal swelling and rupture in all tissues of the human body. Furthermore, autophagic buildup, organelle abnormalities, a...

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Bibliografske podrobnosti
izdano v:Ann Transl Med
Glavni avtor: Schoser, Benedikt
Format: Artigo
Jezik:Inglês
Izdano: AME Publishing Company 2019
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6642932/
https://ncbi.nlm.nih.gov/pubmed/31392204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.05.29
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