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Glycogen storage disease type Ib without hypoglycemia

✍ Scribed by Alexander Kovacevic; Roland Ehrlich; Ertan Mayatepek; Udo Wendel; Bernd Schwahn

Book ID
116987941
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
92 KB
Volume
90
Category
Article
ISSN
1096-7192

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Glycogen storage disease type Ib
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Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia. The overall glucose-6-pho

Glycogen storage disease type Ib: famili
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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 disorde