Browsing by Author "Austin, SL"

Now showing items 1-2 of 2

    • Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation. 

      Austin, SL; Case, Laura Elizabeth; Chiou, A; Govendrageloo, K; Hansen, P; Kishnani, Priya Sunil; Sun, Baodong (Mol Genet Metab, 2017-01)
      OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations ...

    • Natural Progression of Canine Glycogen Storage Disease Type IIIa. 

      Austin, SL; Brooks, ED; Fyfe, JC; Kishnani, Priya Sunil; Sun, Baodong; Thurberg, BL; Yi, Haiqing; ... (8 authors) (Comp Med, 2016-02)
      Glycogen storage disease type IIIa (GSD IIIa) is caused by a deficiency of glycogen debranching enzyme activity. Hepatomegaly, muscle degeneration, and hypoglycemia occur in human patients at an early age. Long-term complications ...