title: Diagnosis of a novel glycogen storage disease: type 1aSP.
authors.affiliation: Department of Medicine, Ninewells Hospital and Medical School, University of Dundee, UK.
authors.forename: A
authors.initials: A
authors.lastname: Burchell
authors.forename: I D
authors.initials: ID
authors.lastname: Waddell
mesh_terms: D002135:Calcium-Binding Proteins / Q000172:deficiency; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D015151:Immunoblotting; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology; D008297:Male; D008862:Microsomes, Liver / Q000201:enzymology; D008970:Molecular Weight
chemical_list: D002135:Calcium-Binding Proteins; D005952:Glucose-6-Phosphatase