title: Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening.
authors: University Children's Hospital, Freiburg, Germany.
authors: D
authors: D
authors: Matern
authors: H
authors: H
authors: Niederhoff
authors: M
authors: M
authors: Brandis
authors: J Y
authors: JY
authors: Chou
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D005952:Glucose-6-Phosphatase / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D005952:Glucose-6-Phosphatase