title: A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1.
authors.affiliation: Department of Pediatrics, Miyazaki Medical College, University of Miyazaki, Miyazaki, Japan.
authors.forename: Fumio
authors.initials: F
authors.lastname: Hidaka
authors.forename: Hirotake
authors.initials: H
authors.lastname: Sawada
authors.forename: Misayo
authors.initials: M
authors.lastname: Matsuyama
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nunoi
mesh_terms: D002675:Child, Preschool; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010764:Phosphorylase Kinase / Q000235:genetics*
chemical_list: D010764:Phosphorylase Kinase