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European Journal of Pediatrics

, Volume 143, Issue 1, pp 7–9 | Cite as

Glycogen storage disease type Ib: familial bleeding tendency

  • K. Heyne
  • D. Hosenfeld
  • W. Grote
  • J. Schaub
Original Investigations

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.

Key words

Glycogen storage disease type Ib Familial bleeding tendency Platelet dysfunction von Willebrand disease 

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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Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • K. Heyne
    • 1
  • D. Hosenfeld
    • 2
  • W. Grote
    • 2
  • J. Schaub
    • 3
  1. 1.Klinik für PaediatrieMedizinische Hochschule LübeckLübeck 1Federal Republic of Germany
  2. 2.Abteilung HumangenetikKlinikum der Christian-Albrechts-Universität KielKiel 1Federal Republic of Germany
  3. 3.Abteilung Allgemeine PaediatrieKlinikum der Christian-Albrechts-Universität KielKiel 1Federal Republic of Germany

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