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10.1097/MOP.0000000000000064

http://scihub22266oqcxt.onion/10.1097/MOP.0000000000000064
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C4031235!4031235!24553630
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suck abstract from ncbi


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pmid24553630      Curr+Opin+Pediatr 2014 ; 26 (2): 215-22
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  • Inherited Disorders of Calcium and Phosphate Metabolism #MMPMID24553630
  • Gattineni J
  • Curr Opin Pediatr 2014[Apr]; 26 (2): 215-22 PMID24553630show ga
  • Purpose of Review: Inherited disorders of calcium and phosphate homeostasis have variable presentation and can cause significant morbidity. Understanding the mode of inheritance and pathophysiology of these conditions will help in the diagnosis and early institution of therapy. Recent Findings: Identification of genetic mutations in human subjects and animal models has advanced our understanding of many inherited disorders of calcium and phosphate regulation. Identification of mutations of CaSR also has improved our understanding of hypocalcemic and hypercalcemic conditions. Mutations of Fgf23, Klotho and phosphate transporter genes have been identified as causes for disorders of phosphate metabolism. Summary: Calcium and phosphate homeostasis is tightly regulated in a narrow range due to their vital role in many biological processes. Inherited disorders of calcium and phosphate metabolism though uncommon can have severe morbidity. Genetic counseling of the affected families is an important part of the follow up of these patients.
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