Case report: Reversible Fanconi syndrome due to vitamin D deficiency in a patient with epilepsy harbouring a pathogenic variant in the SLC34A1 gene
病例报告:一名携带SLC34A1基因致病性变异的癫痫患者,因维生素D缺乏导致可逆性范可尼综合征
期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2025.1553032
Improda, Nicola; Rosanio, Francesco Maria; Annicchiarico Petruzzelli, Luigi; Ambrosio, Gyusy; Malgieri, Gabriele; Mandato, Claudia; Licenziati, Maria Rosaria