Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia

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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Bibliographic Details
Main Author: Sanaa Sharari (12561952) (author)
Other Authors: Mohamad Abou-Alloul (18719020) (author), Khalid Hussain (110443) (author), Faiyaz Ahmad Khan (18719023) (author)
Published: 2020
Subjects:
Biological sciences
Biochemistry and cell biology
Genetics
Biomedical and clinical sciences
Clinical sciences
Medical biochemistry and metabolomics
Fanconi–Bickel Syndrome (FBS)
SLC2A2 mutation
GLUT2 dysfunction
dysglycaemia
liver
pancreatic β cell
cAMP
insulin secretion
birth weight
hepatomegaly
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