Genetic Disorders of Calcium and Phosphorus Metabolism

Miller, Assia; Mathew, Serina; Patel, Sneha; Fordjour, Lawrence; Chin, Vivian L.

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Author

Miller, Assia
Mathew, Serina
Patel, Sneha
Fordjour, Lawrence
Chin, Vivian L.

Keyword

Genetics
calcium and phosphorus
Hypercalcemia
Hypocalcemia
Hypvervitamosis D
Hypovitamosis D
Rickets
Hypophosphametic rickets
Hyperparathyroidism
Hypoparathyroidism

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Journal title

Endocrines

Date Published

2022-03-17

Publication Volume

Publication Issue

Publication Begin page

150

Publication End page

167

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URI

http://hdl.handle.net/20.500.12648/8694

Abstract

In this review, we describe genetic mutations affecting metabolic pathways of calcium and phosphorus homeostasis. Calcium and phosphorus homeostasis has tight hormonal regulation by three major hormones: vitamin D, parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23). We describe the physiology and pathophysiology of disorders, their biochemical profile, clinical characteristics, diagnostics, and treatments.

Citation

Miller A, Mathew S, Patel S, Fordjour L, Chin VL. Genetic Disorders of Calcium and Phosphorus Metabolism. Endocrines. 2022; 3(1):150-167. https://doi.org/10.3390/endocrines3010014

DOI

10.3390/endocrines3010014

Collections

Downstate College of Medicine

Except where otherwise noted, this item's license is described as https://creativecommons.org/licenses/by/4.0/