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
Secondary amyloidosis in glycogen storage disease type Ib
โ Scribed by M. Kikuchi; K. Haginoya; S. Miyabayashi; Y. Igarashi; K. Narisawa; K. Tada
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 574 KB
- Volume
- 149
- Category
- Article
- ISSN
- 0340-6997
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๐ SIMILAR VOLUMES
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
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
Persistent neutropenia and repeated respiratory infections were documented in a girl with glycogen storage disease type Ib. A termino-lateral portacaval shunt resulted in normalisation of the granulocyte counts and disappearance of the recurrent infections. The platelet dysfunction that was apparent