A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel FBP1 mutation (p.Phe90Val)

Affiliations

• ¹ Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
• ² Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
• ³ Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan.
• ⁴ Department of Endocrinology and Metabolism, Okinawa Prefectural Nanbu Medical Center & Children's Medical Center, Okinawa, Japan.
• ⁵ Department of Pediatrics, Shimane University School of Medicine, Shimane, Japan.