Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children

BACKGROUND: Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical features. There is a paucity of reported data on FBS fr...

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Библиографические подробности
Опубликовано в: :Int J Pediatr Endocrinol
Главные авторы: Musa, Salwa A., Ibrahim, Areej A., Hassan, Samar S., Johnson, Matthew B, Basheer, Asmahan T., Arabi, Ali M., Abdullah, Mohamed A.
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2020
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7684918/
https://ncbi.nlm.nih.gov/pubmed/33292488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13633-020-00091-5
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