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Genetic Disorders of Calcium and Phosphorus Metabolism

dc.contributor.authorMiller, Assia
dc.contributor.authorMathew, Serina
dc.contributor.authorPatel, Sneha
dc.contributor.authorFordjour, Lawrence
dc.contributor.authorChin, Vivian L.
dc.date.accessioned2023-05-12T16:43:41Z
dc.date.available2023-05-12T16:43:41Z
dc.date.issued2022-03-17
dc.identifier.citationMiller 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/endocrines3010014en_US
dc.identifier.eissn2673-396X
dc.identifier.doi10.3390/endocrines3010014
dc.identifier.piiendocrines3010014
dc.identifier.urihttp://hdl.handle.net/20.500.12648/8694
dc.description.abstractIn 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.en_US
dc.language.isoenen_US
dc.publisherMDPI AGen_US
dc.relation.urlhttps://www.mdpi.com/2673-396X/3/1/14en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectGeneticsen_US
dc.subjectcalcium and phosphorusen_US
dc.subjectHypercalcemiaen_US
dc.subjectHypocalcemiaen_US
dc.subjectHypvervitamosis Den_US
dc.subjectHypovitamosis Den_US
dc.subjectRicketsen_US
dc.subjectHypophosphametic ricketsen_US
dc.subjectHyperparathyroidismen_US
dc.subjectHypoparathyroidismen_US
dc.subjectHypophosphatasiaen_US
dc.titleGenetic Disorders of Calcium and Phosphorus Metabolismen_US
dc.typeArticle/Reviewen_US
dc.source.journaltitleEndocrinesen_US
dc.source.volume3
dc.source.issue1
dc.source.beginpage150
dc.source.endpage167
dc.description.versionVoRen_US
refterms.dateFOA2023-05-12T16:43:42Z
dc.description.institutionSUNY Downstateen_US
dc.description.departmentPediatrics, Division of Pediatric Endocrinologyen_US
dc.description.degreelevelN/Aen_US


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