Associated Papers
Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.
Turan I et al.
Calcified Tissue International, 2026
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
De Paolis E et al.
Clinical Chemistry and Laboratory Medicine, 2019
Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.
Dinour D et al.
Pediatric Nephrology (berlin, Germany), 2016
Nephrocalcinosis: unveiling renal tubulopathies in the genomic era.
Ayoub EAM et al.
Jornal Brasileiro De Nefrologia, 0
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