Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Schneider, Joseph, Burmeister, Lynn A., Rudser, Kyle, Whitley, Chester B., Jarnes Utz, Jeanine
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
Matèries:
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!