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Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH

Tang AR, Hinz LE, Khan A, Kline GA.

Endocrinol Diabetes Metab Case Rep. 2019 Jul 26;2019(1):1-6. doi: 10.1530/EDM-19-0058.


Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.

Dhir G, Li D, Hakonarson H, Levine MA.

Bone. 2017 Apr;97:15-19. doi: 10.1016/j.bone.2016.12.001. Epub 2016 Dec 7.


Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.

Ichikawa S, Tuchman S, Padgett LR, Gray AK, Baluarte HJ, Econs MJ.

Bone. 2014 Feb;59:53-6. doi: 10.1016/j.bone.2013.10.018. Epub 2013 Oct 29.


A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3.

Page K, Bergwitz C, Jaureguiberry G, Harinarayan CV, Insogna K.

Endocr Pract. 2008 Oct;14(7):869-74.

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