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Published in 2017 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.3135
Abstract: CYP24A1 mutations are now accepted as a cause of idiopathic infantile hypercalcemia (IIH). A rapid liquid‐chromatography tandem mass spectrometry (LC‐MS/MS)‐based blood test enabling measurement of the 25‐OH‐D3:24,25‐(OH)2D3 ratio (R) can identify IIH patients on the…
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Keywords:
serum 2d3;
infantile hypercalcemia;
iih;
idiopathic infantile ... See more keywords
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3
Published in 2023 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4769
Abstract: Loss‐of‐function mutations in the CYP24A1 protein‐coding region causing reduced 25 hydroxyvitamin D (25OHD) and 1,25 dihydroxyvitamin D (1,25(OH)2D) catabolism have been observed in some cases of infantile hypercalcemia type 1 (HCINF1), which can manifest as…
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Keywords:
untranslated region;
hypercalcemia;
infantile hypercalcemia;
structural elements ... See more keywords
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Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.122
Abstract: Introduction The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia and is a genetic risk factor for the development of symptomatic hypercalcemia that may be triggered…
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Keywords:
hypercalcemia;
infantile hypercalcemia;
idiopathic infantile;
vitamin ... See more keywords
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Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-mon-253
Abstract: Abstract Background: Williams-Beuren Syndrome (WBS) is due to a microdeletion on chromosome 7q11, and is associated with facial dysmorphisms, supravalvular aortic stenosis, a sociable personality and infantile hypercalcemia that is clasically mild and transient. Here…
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Keywords:
wbs;
williams beuren;
infantile hypercalcemia;
beuren syndrome ... See more keywords
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1
Published in 2022 at "Nutrients"
DOI: 10.3390/nu14153221
Abstract: Infantile hypercalcemia type 1 (HCINF1), previously known as idiopathic infantile hypercalcemia, is caused by mutations in the 25-hydroxyvitamin D 24-hydroxylase gene, CYP24A1. The R396W loss-of-function mutation in CYP24A1 is the second most frequent mutated allele…
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Keywords:
hypercalcemia type;
infantile hypercalcemia;
cyp24a1 r396w;
hypercalcemia ... See more keywords