Der Fruktose-1,6-Bisphosphatase-Mangel ist eine autosomal rezessive Erkrankung, die durch Mutationen des FBP1-Gens hervorgerufen wird und durch Hypoglykämie und metabolische Azidose gekennzeichnet ist.
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Orphanet article Orphanet ID 348![]() |
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OMIM.ORG article Omim 229700![]() |