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

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 indels, splice site, and compound...

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Detalles Bibliográficos
Autores principales: Sharari, Sanaa, Abou-Alloul, Mohamad, Hussain, Khalid, Ahmad Khan, Faiyaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7504390/
https://www.ncbi.nlm.nih.gov/pubmed/32877990
http://dx.doi.org/10.3390/ijms21176286

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7504390/
https://www.ncbi.nlm.nih.gov/pubmed/32877990
http://dx.doi.org/10.3390/ijms21176286

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