title: A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.
abstract: We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.
authors.affiliation: Department of Metabolic Disease, Beatrix Children's Hospital, PO Box 30001, 9700 RB Groningen, The Netherlands. d.h.j.martensj@bkk.umcg.nl
authors.forename: D H J
authors.initials: DH
authors.lastname: Martens
authors.forename: T W
authors.initials: TW
authors.lastname: Kuijpers
authors.forename: N A
authors.initials: NA
authors.lastname: Maianski
authors.forename: J P
authors.initials: JP
authors.lastname: Rake
authors.forename: G P A
authors.initials: GP
authors.lastname: Smit
authors.forename: G
authors.initials: G
authors.lastname: Visser
mesh_terms: D000293:Adolescent; D017920:Antiporters / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008099:Liver / Q000201:enzymology; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D009154:Mutation; D009503:Neutropenia / Q000175:diagnosis* / Q000235:genetics*; D009504:Neutrophils / Q000378:metabolism / Q000473:pathology*; D010641:Phenotype
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C111261:glucose 6-phosphate(transporter)