Glycogen storage disease 1B is similar to von Gierke disease except for the underlying gene defect. As with glycogen storage disease 1C the transporter is deficient. Inheritance is autosomal recessive.
Glycogen storage disease 1 | ||||
Glycogen storage disease 1A | ||||
Glycogen storage disease 1B | ||||
SLC37A4 | ||||
Glycogen storage disease 1C | ||||
2. |
Senior B et al. (1968) Functional differentiation of glycogenoses of the liver with respect to the use of glycerol. |
3. |
Ambruso DR et al. (1985) Infectious and bleeding complications in patients with glycogenosis Ib. |
4. |
Ueno N et al. (1986) Impaired monocyte function in glycogen storage disease type Ib. |
5. |
Roe TF et al. (1986) Inflammatory bowel disease in glycogen storage disease type Ib. |
6. |
Bashan N et al. (1988) Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib. |
7. |
Narisawa K et al. (1986) Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b. |
8. |
Heyne K et al. (1989) Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity. |
9. |
Kikuchi M et al. (1990) Secondary amyloidosis in glycogen storage disease type Ib. |
10. |
Schroten H et al. (1991) Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib. |
11. |
Roe TF et al. (1992) Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors. |
12. |
Arion WJ et al. (1975) On the involvement of a glucose 6-phosphate transport system in the function of microsomal glucose 6-phosphatase. |
13. |
Narisawa K et al. (1978) A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system. |
14. |
Kuijpers TW et al. (2003) Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). |
15. |
Yang Chou J et al. (1999) Molecular Genetics of Type 1 Glycogen Storage Diseases. |
16. |
Lee PJ et al. (1996) Uncooked cornstarch--efficacy in type I glycogenosis. |
17. |
Talente GM et al. (1994) Glycogen storage disease in adults. |
18. |
Schaub J et al. (1981) Glycogenosis type Ib. Further evidence for a membrane disease. |
19. |
Corbeel L et al. () Haematological findings in type Ib glycogen storage disease before and after portacaval shunt. |
20. |
Heyne K et al. (1984) Glycogen storage disease type Ib: familial bleeding tendency. |
21. |
Seger R et al. (1984) Short communication. Glycogenosis Ib: neutrophil microbicidal defects due to impaired hexose monophosphate shunt. |
22. |
Schaub J et al. (1983) Glycogen storage disease type Ib. |
23. |
Buchino JJ et al. (1983) Glycogen storage disease type IB. |
24. |
Kuzuya T et al. (1983) An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies. |
25. |
None (1980) Is type 1b glycogenosis related to an anomeric preference for glucose-6-phosphate uptake by hepatic microsomes? |
26. |
Sann L et al. (1980) In vivo evidence for defective activity of glucose-6-phosphatase in type IB glycogenosis. |
27. |
Annabi B et al. (1998) The gene for glycogen-storage disease type 1b maps to chromosome 11q23. |
28. |
Kure S et al. (2000) Glycogen storage disease type Ib without neutropenia. |
29. |
Gerin I et al. (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. |
30. |
OMIM.ORG article Omim 232220 |