title: Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.
authors.affiliation: Section of Gastroenterology, Department of Pediatrics, Texas Tech University Health Sciences Center, Amarillo, TX 79106, USA. abiodun.johnson@ttuhsc.edu
authors.forename: Abiodun O
authors.initials: AO
authors.lastname: Johnson
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Goldstein
authors.forename: Deeksha
authors.initials: D
authors.lastname: Bali
mesh_terms: D006008:Glycogen Storage Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000150:complications / Q000473:pathology*; D008297:Male; D020125:Mutation, Missense; D010764:Phosphorylase Kinase / Q000172:deficiency / Q000235:genetics*
chemical_list: D010764:Phosphorylase Kinase