Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene

• Autori principali: Hamza Hassan Khan (Autore), Lauren Parr (Autore), Allison Jay (Autore), Saleem Raza (Autore), Hernando Lyons (Autore), Sanjay Kumar (Autore)
• Natura: Libro
• Pubblicazione: Hindawi Limited, 2020-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and normal spleen size. Liver and muscle biopsies were obtained: th...