Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient.
Fanconi-Bickel syndrome (FBS)
clustered regularly interspaced short palindromic repeats (CRISPR)- Cas9
dysglycemia
glucose transporter 2 (GLUT2)
sodium-glucose transport protein 2 (SGLT2)
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2022
2022
Historique:
received:
22
12
2021
accepted:
07
04
2022
entrez:
6
6
2022
pubmed:
7
6
2022
medline:
9
6
2022
Statut:
epublish
Résumé
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
Identifiants
pubmed: 35663312
doi: 10.3389/fendo.2022.841788
pmc: PMC9159359
doi:
Substances chimiques
Glucose
IY9XDZ35W2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
841788Informations de copyright
Copyright © 2022 Sharari, Aouida, Mohammed, Haris, Bhat, Hawari, Nisar, Pavlovski, Biswas, Syed, Maacha, Grivel, Saifaldeen, Ericsson and Hussain.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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