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Article

Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.

The Journal of clinical endocrinology and metabolism - 1 Dec 2017

Demir Korcan, Yildiz Melek, Bahat Hilla, Goldman Michael, Hassan Nisreen, Tzur Shay, Ofir Ayala, Magen Daniella

Abstract excerpt

Context: NaPi-IIa, encoded by SLC34A1, is a key phosphate transporter in the mammalian proximal tubule and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi syndrome with chronic kidney disease, and, most recently, idiopathic infantile hypercalcemia and...

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PMID: 29029121
DOI: 10.1210/jc.2017-01592

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