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Genetic Disorders of Calcium and Phosphorus Metabolism

Journal Title
Endocrines
Keywords
Genetics
 calcium and phosphorus
 Hypercalcemia
 Hypocalcemia
 Hypvervitamosis D
 Hypovitamosis D
 Rickets
 Hypophosphametic rickets
 Hyperparathyroidism
 Hypoparathyroidism
 Hypophosphatasia
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Journal Title
Term and Year
Publication Date
2022-03-17
Book Title
Publication Volume
3
Publication Issue
1
Publication Begin
150
Publication End
167
Number of pages
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Downstate College of Medicine
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endocrines-03-00014.pdf
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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
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