Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Glycogenspeicherkrankheit 1A

Die Glycogenspeicherkrankheit 1a (von Gierke) ist ein autosomal rezessiver Glucose-6-Phosphatase-Mangel, der sich sowohl in der Niere als auch in der Leber manifestiert. Die Manifestation in der Niere ist häufig eine Glomerulosklerose aber auch ein renotubuläres Fanconi-Syndrom wird beobachtet.

Symptome

Proximaler Tubulusschaden
Die renale Manifestation der von Gierke-Erkrankung besteht in einem renotubulären Fanconi-Syndrom und einer Glomerulosklerose.

Gliederung

Glycogenspeicherkrankheit 1
Glycogenspeicherkrankheit 1A
G6PC
Glycogenspeicherkrankheit 1B
Glycogenspeicherkrankheit 1C

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147.

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148.

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149.

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150.

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151.

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152.

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153.

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154.

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155.

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156.

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157.

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158.

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159.

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160.

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161.

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162.

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163.

None (2000) Cellular copper transport and metabolism.

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164.

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165.

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166.

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168.

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169.

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171.

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172.

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173.

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174.

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175.

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176.

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