title: Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.
abstract: The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denaturing high performance liquid chromatography.
authors.affiliation: Department of Medical Biology and Human Genetics, Innsbruck Medical University, Austria. Andreas.Janecke@uibk.ac.at
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Janecke
authors.forename: Susanne
authors.initials: S
authors.lastname: Dertinger
authors.forename: Uwe-Peter
authors.initials: UP
authors.lastname: Ketelsen
authors.forename: Lothar
authors.initials: L
authors.lastname: Bereuter
authors.forename: Burkhard
authors.initials: B
authors.lastname: Simma
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Vogel
authors.forename: Felix A
authors.initials: FA
authors.lastname: Offner
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics*; D005260:Female; D006011:Glycogen Storage Disease Type IV / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008107:Liver Diseases / Q000209:etiology; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation; D009468:Neuromuscular Diseases / Q000209:etiology
chemical_list: D015061:1,4-alpha-Glucan Branching Enzyme