title: A juvenile variant of glycogenosis IV (Andersen disease).
abstract: An unusual patient with Andersen disease (glycogenosis type IV) is presented, with only relatively mild clinical symptoms at the age of 8 years. The patient has a profound deficiency of glycogen-branching enzyme.
authors.forename: A S
authors.initials: AS
authors.lastname: Guerra
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: F
authors.initials: F
authors.lastname: Carneiro
authors.forename: R M
authors.initials: RM
authors.lastname: Tsou
authors.forename: S
authors.initials: S
authors.lastname: Simoes
authors.forename: N T
authors.initials: NT
authors.lastname: Santos
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000172:deficiency; D002648:Child; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000378:metabolism*; D006011:Glycogen Storage Disease Type IV / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000473:pathology
chemical_list: D006003:Glycogen; D015061:1,4-alpha-Glucan Branching Enzyme