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Long-term outcome and unmet needs in infantile-onset Pompe disease

Infantile-onset Pompe disease (IOPD) is characterized by virtually complete absence of acid alpha-glucosidase (GAA)-activity, resulting in rapidly progressive hypertrophic cardiomyopathy (HCM), profound skeletal muscle weakness, and death usually within the first 12 months of life. Enzyme replacemen...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Ann Transl Med
Päätekijät: Hahn, Andreas, Schänzer, Anne
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: AME Publishing Company 2019
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6642934/
https://ncbi.nlm.nih.gov/pubmed/31392195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.04.70
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