Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic <i>GLUT2</i> (<i>SLC2A2</i>) 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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| Autores principales: | , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
MDPI AG
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/c51b0165426a4ce1bd7209aa1a9f89b4 |
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