Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

Fanconi-Bickel syndrome (FBS) is a very rare but distinct clinical entity with the combined features of hepatic glycogen storage disease, generalized proximal renal tubular dysfunction with disproportionately severe glucosuria, and impaired galactose tolerance. Here, we report five cases (out of 93...

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Detalles Bibliográficos
Autores principales: Grünert, Sarah C., Schumann, Anke, Baronio, Federico, Tsiakas, Konstantinos, Murko, Simona, Spiekerkoetter, Ute, Santer, René
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8622088/
https://www.ncbi.nlm.nih.gov/pubmed/34828390
http://dx.doi.org/10.3390/genes12111785

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8622088/
https://www.ncbi.nlm.nih.gov/pubmed/34828390
http://dx.doi.org/10.3390/genes12111785

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