Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening.
Matern
D
D
University Children's Hospital, Freiburg, Germany.
Niederhoff
H
H
Brandis
M
M
Chou
J Y
JY
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
D005952:Glucose-6-Phosphatase