Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series
İhsan Turan, Müge Atar, Mehmet Eltan, Ahmet Anık et autres
Pathogenic variants in the SLC34A1 gene, which encodes the sodium-phosphate cotransporter NaPi-IIa, lead to a spectrum of renal tubular disorders, including infantile hypercalcemia type 2, nephrolithiasis/osteoporosis-hypophosphatemia type 2, and Fanconi renotubular syndrome type 2. Despite increasing recognition of SLC34A1-related disorders, data on …
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Calcified Tissue International