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Hypothyroidism in late-onset Pompe disease
PURPOSE: In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms). Symptoms common to all phenotypes include progres...
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| Pubblicato in: | Mol Genet Metab Rep |
|---|---|
| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4932620/ https://ncbi.nlm.nih.gov/pubmed/27408821 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.06.002 |
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