๐”– Bobbio Scriptorium
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Glycogen storage disease type Ib

โœ Scribed by J. Schaub; K. Heyne

Publisher
Springer
Year
1983
Tongue
English
Weight
679 KB
Volume
140
Category
Article
ISSN
0340-6997

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โœฆ Synopsis

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-phosphatase activity in disrupted microsomes from liver is normal whereas glucose-6-phosphate translocase, the first enzyme in the glucose-6-phosphate transport system is absent. There is no glucose-6-phosphatase activity in vivo. Recent results show that in granulocytes the glucose-6-phosphate-dependent hexosemonophosphate-shunt is impaired.

๐Ÿ“œ SIMILAR VOLUMES

Glycogen storage disease type Ib: famili
Glycogen storage disease type Ib: familial bleeding tendency
โœ K. Heyne; D. Hosenfeld; W. Grote; J. Schaub ๐Ÿ“‚ Article ๐Ÿ“… 1984 ๐Ÿ› Springer ๐ŸŒ English โš– 331 KB

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

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Glycogen storage disease type 1b (GSD-1b) is due to an autosomal recessive inborn error of carbohydrate metabolism caused by defects in glucose-6-phosphatase translocase. Patients with GSD-1b have severe hypoglycemia with several clinical manifestations of hepatomegaly, obesity, a doll-like face, an