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5
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5
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"Hypercalcemia," "infantile," 2
- ... Disorders (NORD) ClinicalTrials.gov HYPERCALCEMIA, INFANTILE, 1; HCINF1 HYPERCALCEMIA, INFANTILE, 2; HCINF2 PubMed Carpenter TO. CYP24A1 loss of function: ...
- ... cause a type of idiopathic infantile hypercalcemia called infantile hypercalcemia 2, which is characterized by high levels of calcium ... stones (nephrolithiasis).The SLC34A1 gene mutations that cause infantile hypercalcemia 2 lead to production of an altered NaPi-IIa ...
- ... in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases. J Appl Genet. 2017 Aug;58(3):349-353. doi: 10.1007/s13353-017-0397-2. Epub 2017 May 3. Citation on PubMed or ...
- Calcium (National Library of Medicine)What is calcium and why do I need it? Calcium is a mineral, a nutrient that you need (in small amounts) to keep your body healthy. You have more calcium ...
- ... and high levels of calcium in the blood (hypercalcemia), which can lead to recurrent vomiting and kidney ... hypophosphatasia Genetic Testing Registry: Hypophosphatasia Genetic Testing Registry: Infantile hypophosphatasia Hypophosphatasia National Organization for Rare Disorders (NORD) ...