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

• Hoofdauteurs: Evgenia Gurevich (Auteur), Shelly Levi (Auteur), Yael Borovitz (Auteur), Hadas Alfandary (Auteur), Liat Ganon (Auteur), Dganit Dinour (Auteur), Miriam Davidovits (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Onderwerpen: article
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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...