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
Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia.
Eltan M et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport and cause congenital hypophosphatemia.
Sneddon WB et al.
The Biochemical Journal, 2023
Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport causing congenital hypophosphatemia.
Sneddon WB et al.
Biorxiv : the Preprint Server for Biology, 2023
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
Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.
Demir K et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.
Dinour D et al.
Pediatric Nephrology (berlin, Germany), 2016
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
Rajagopal A et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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