Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up

• Päätekijät: Evgenia Gurevich (Tekijä), Shelly Levi (Tekijä), Yael Borovitz (Tekijä), Hadas Alfandary (Tekijä), Liat Ganon (Tekijä), Dganit Dinour (Tekijä), Miriam Davidovits (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Purpose: Hypercalcemia with low parathyroid hormone (PTH) level, hypercalciuria, nephrocalcinosis, or nephrolithiasis, was recently reported as caused by mutations in CYP24A1 and SLC34A genes. These encode for vitamin D-24A-hydroxylase and for the renal phosphate transporters NaPiIIa and NaPiIIc, re...