Abstract
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.
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Abbreviations
- GSD Ia:
-
glycogen storage disease type Ia
- GSD Ib:
-
glycogen storage disease type Ib
- G6P:
-
glucose-6-phosphate
- G6P-ase:
-
glucose-6-phosphatase
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Heyne, K., Hosenfeld, D., Grote, W. et al. Glycogen storage disease type Ib: familial bleeding tendency. Eur J Pediatr 143, 7–9 (1984). https://doi.org/10.1007/BF00442739
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DOI: https://doi.org/10.1007/BF00442739