An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond

Pompe disease (PD) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acid-alpha glucosidase (GAA). Pathogenic variants in the GAA gene lead to excessive accumulation of lysosomal glycogen primarily in the cardiac, skeletal, and smooth muscles. There is growing evidence of...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Ann Transl Med
Päätekijät: Korlimarla, Aditi, Lim, Jeong-A, Kishnani, Priya S., Sun, Baodong
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: AME Publishing Company 2019
Aiheet:
Review Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6642933/
https://ncbi.nlm.nih.gov/pubmed/31392201
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.04.49
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