Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Glycogenspeicherkrankheit 1B

Die Glycogenspeicherkrankheit 1B zeigt ähnliche Symptome wie die von Gierke-Erkrankung. Im Unterschied zu dieser ist allerdings wie bei der Glycogenspeicherkrankheit 1C der Transporter, das Gen SLC37A4, betroffen. Der Erbgang ist autosomal rezessiv.

Gliederung

Glycogenspeicherkrankheit 1
Glycogenspeicherkrankheit 1A
Glycogenspeicherkrankheit 1B
SLC37A4
Glycogenspeicherkrankheit 1C

Referenzen:

1.

Gerin I et. al. (1997) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

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2.

Kure S et. al. (1998) Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

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3.

Kure S et. al. (2000) Glycogen storage disease type Ib without neutropenia.

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4.

Annabi B et. al. (1998) The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

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5.

Sann L et. al. (1980) In vivo evidence for defective activity of glucose-6-phosphatase in type IB glycogenosis.

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6.

None (1980) Is type 1b glycogenosis related to an anomeric preference for glucose-6-phosphate uptake by hepatic microsomes?

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7.

Kuzuya T et. al. (1983) An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies.

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8.

Buchino JJ et. al. (1983) Glycogen storage disease type IB.

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9.

Schaub J et. al. (1983) Glycogen storage disease type Ib.

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10.

Seger R et. al. (1984) Short communication. Glycogenosis Ib: neutrophil microbicidal defects due to impaired hexose monophosphate shunt.

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11.

Heyne K et. al. (1984) Glycogen storage disease type Ib: familial bleeding tendency.

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12.

Corbeel L et. al. () Haematological findings in type Ib glycogen storage disease before and after portacaval shunt.

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13.

Schaub J et. al. (1981) Glycogenosis type Ib. Further evidence for a membrane disease.

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14.

Talente GM et. al. (1994) Glycogen storage disease in adults.

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15.

Lee PJ et. al. (1996) Uncooked cornstarch--efficacy in type I glycogenosis.

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16.

Yang Chou J et. al. (1999) Molecular Genetics of Type 1 Glycogen Storage Diseases.

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17.

Kuijpers TW et. al. (2003) Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).

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18.

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.

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19.

Arion WJ et. al. (1975) On the involvement of a glucose 6-phosphate transport system in the function of microsomal glucose 6-phosphatase.

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20.

Roe TF et. al. (1992) Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors.

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21.

Schroten H et. al. (1991) Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib.

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22.

Kikuchi M et. al. (1990) Secondary amyloidosis in glycogen storage disease type Ib.

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23.

Heyne K et. al. (1989) Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity.

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24.

Narisawa K et. al. (1986) Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b.

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25.

Bashan N et. al. (1988) Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib.

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26.

Roe TF et. al. (1986) Inflammatory bowel disease in glycogen storage disease type Ib.

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27.

Ueno N et. al. (1986) Impaired monocyte function in glycogen storage disease type Ib.

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28.

Ambruso DR et. al. (1985) Infectious and bleeding complications in patients with glycogenosis Ib.

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29.

Senior B et. al. (1968) Functional differentiation of glycogenoses of the liver with respect to the use of glycerol.

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