A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa

Affiliations

• ¹ Department of Pediatrics, NTT East Sapporo Hospital, Sapporo, Hokkaido, Japan.
• ² Department of Medical Genetics, Sapporo Medical University, Sapporo, Hokkaido, Japan.
• ³ Department of Medical Genetics, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Hokkaido, Japan.
• ⁴ Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
• ⁵ Faculty of Health Science, Tokoha University, Hamamatsu, Shizuoka, Japan.