title: Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation.
authors.forename: M
authors.initials: M
authors.lastname: Chopra
authors.forename: R
authors.initials: R
authors.lastname: Jackson
authors.forename: M
authors.initials: M
authors.lastname: Durkie
authors.forename: N J
authors.initials: NJ
authors.lastname: Beauchamp
authors.forename: E P
authors.initials: EP
authors.lastname: Kirk
mesh_terms: D017920:Antiporters / Q000235:genetics; D002648:Child; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; D022821:RNA Splice Sites; C503531:SLC37A4 protein, human