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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Metab Rep
Päätekijät: Schneider, Joseph, Burmeister, Lynn A., Rudser, Kyle, Whitley, Chester B., Jarnes Utz, Jeanine
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2016
Aiheet:
Research Paper
Linkit: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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