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Article

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

Frontiers in endocrinology - 1 Jan 2022

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

Abstract excerpt

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 dysglycemia but the molecular mechanisms of dysglycemia are still not clearly understood. Therefore, we aimed to...

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Identifiers

PMID: 35663312
DOI: 10.3389/fendo.2022.841788
PMCID: PMC9159359

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