Heyne K, Hosenfeld D, Grote W, Schaub J
Eur J Pediatr. 1984 Nov;143(1):7-9. doi: 10.1007/BF00442739.
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.
在一名患有I型糖原贮积病(GSD)Ib的女孩的家庭成员中记录到一种具有血管性血友病特征的轻度出血倾向。据推测,一种依赖葡萄糖-6-磷酸的微粒体糖蛋白合成缺陷与该患者及GSD Ib杂合子的出血性疾病有关。