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Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient

Fanconi–Bickel Syndrome (FBS) is a rare disorder of carbohydrate metabolism that is characterized mainly by the accumulation of glycogen in the liver and kidney. It is inherited as an autosomal recessive disorder caused by mutations in the SLC2A2 gene, which encodes for GLUT2. Patients with FBS have...

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Detalles Bibliográficos
Autores principales: Sharari, Sanaa, Aouida, Mustapha, Mohammed, Idris, Haris, Basma, Bhat, Ajaz Ahmad, Hawari, Iman, Nisar, Sabah, Pavlovski, Igor, Biswas, Kabir H., Syed, Najeeb, Maacha, Selma, Grivel, Jean-Charles, Saifaldeen, Maryam, Ericsson, Johan, Hussain, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9159359/
https://www.ncbi.nlm.nih.gov/pubmed/35663312
http://dx.doi.org/10.3389/fendo.2022.841788