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Glycogen storage disease type Ib: familial bleeding tendency

✍ Scribed by K. Heyne; D. Hosenfeld; W. Grote; J. Schaub

Publisher: Springer
Year: 1984
Tongue: English
Weight: 331 KB
Volume: 143
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf00442739

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✦ Synopsis

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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