Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder caused by mutations of the FBP1 gene and characterized by hypoglycemia and metabolic acidosis.
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Orphanet article Orphanet ID 348 |
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OMIM.ORG article Omim 229700 |
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Wikipedia article Wikipedia EN (Fructose_1,6-bisphosphatase) |