Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia
<p dir="ltr">Accumulation of glycogen in the kidney and liver is the main feature of Fanconi–Bickel Syndrome (FBS), a rare disorder of carbohydrate metabolism inherited in an autosomal recessive manner due to SLC2A2 gene mutations. Missense, nonsense, frame-shift (fs), in-frame indel...
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2020
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