Die Glycogenspeicherkrankheit 1 (von Gierke) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen SLC37A4 oder G6PC ausgelöst wird. Die Manifestation ist sowohl in der Niere als auch in der Leber. In der Niere sehen wir eine Vergrößerung des Organs, eine Glomerulosklerose und ein renotubuläres Fanconi-Syndrom.
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15. |
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18. |
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21. |
Weinstein DA et al. (2001) Decreased urinary citrate excretion in type 1a glycogen storage disease. |
22. |
Wierzbicki AS et al. (2001) Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease). |
23. |
Sun MS et al. (2002) Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice. |
24. |
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None () //// |
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28. |
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29. |
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30. |
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31. |
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32. |
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34. |
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35. |
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36. |
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37. |
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38. |
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40. |
Ki CS et al. (2004) Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. |
41. |
Ekstein J et al. (2004) Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. |
42. |
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43. |
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44. |
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46. |
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47. |
Annabi B et al. (1998) The gene for glycogen-storage disease type 1b maps to chromosome 11q23. |
48. |
Visser G et al. (1998) Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c. |
49. |
Lin B et al. (1999) Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene. |
50. |
Sann L et al. (1980) In vivo evidence for defective activity of glucose-6-phosphatase in type IB glycogenosis. |
51. |
None (1980) Is type 1b glycogenosis related to an anomeric preference for glucose-6-phosphate uptake by hepatic microsomes? |
52. |
Kuzuya T et al. (1983) An adult case of type Ib glycogen-storage disease. Enzymatic and histochemical studies. |
53. |
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54. |
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55. |
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OMIM.ORG article Omim 232200 |