Glycogen storage disease type Ib: familial bleeding tendency.
A mild bleeding tendency with characteristics of the von Willebrand disease was documented in family members of a girl with glycogen storage disease type Ib (GSD) Ib). It was assumed that a defective glucose-6-phosphate dependent microsomal glycoprotein synthesis was involved in the bleeding disorder of the patient and the GSD Ib heterozygotes.
D000293:Adolescent; D000328:Adult; D001778:Blood Coagulation Disorders / Q000150:complications / Q000235:genetics*; D002648:Child; D005260:Female; D019298:Glucose-6-Phosphate; D005958:Glucosephosphates / Q000502:physiology; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000235:genetics*; D006023:Glycoproteins / Q000096:biosynthesis; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014842:von Willebrand Diseases / Q000150:complications / Q000235:genetics*
D005958:Glucosephosphates; D006023:Glycoproteins; D019298:Glucose-6-Phosphate