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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2020
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| 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 |