title: Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
authors.affiliation: Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Largo G. Gaslini 5, I-16147 Genova, Italy. claudiobruno@ospedale-gaslini.ge.it
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: D
authors.initials: D
authors.lastname: Cassandrini
authors.forename: M
authors.initials: M
authors.lastname: Gimpelev
authors.forename: B
authors.initials: B
authors.lastname: Giuffrè
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: P
authors.initials: P
authors.lastname: Introvini
authors.forename: A
authors.initials: A
authors.lastname: Alegria
authors.forename: S
authors.initials: S
authors.lastname: Assereto
authors.forename: L
authors.initials: L
authors.lastname: Morandi
authors.forename: M
authors.initials: M
authors.lastname: Mora
authors.forename: E
authors.initials: E
authors.lastname: Tonoli
authors.forename: S
authors.initials: S
authors.lastname: Mascelli
authors.forename: M
authors.initials: M
authors.lastname: Traverso
authors.forename: E
authors.initials: E
authors.lastname: Pasquini
authors.forename: M
authors.initials: M
authors.lastname: Bado
authors.forename: L
authors.initials: L
authors.lastname: Vilarinho
authors.forename: G
authors.initials: G
authors.lastname: van Noort
authors.forename: F
authors.initials: F
authors.lastname: Mosca
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: F
authors.initials: F
authors.lastname: Zara
authors.forename: C
authors.initials: C
authors.lastname: Minetti
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D002478:Cells, Cultured / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004912:Erythrocytes / Q000201:enzymology; D017809:Fatal Outcome; D005347:Fibroblasts / Q000201:enzymology; D018740:Genetic Heterogeneity; D005838:Genotype; D006011:Glycogen Storage Disease Type IV / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006860:Hydrogen Bonding; D057927:Hydrophobic and Hydrophilic Interactions; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008958:Models, Molecular; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009154:Mutation; D010641:Phenotype; D011487:Protein Conformation; D022821:RNA Splice Sites / Q000235:genetics; D017384:Sequence Deletion
chemical_list: D022821:RNA Splice Sites; D004247:DNA; D015061:1,4-alpha-Glucan Branching Enzyme