載入...
Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation
Idiopathic infantile hypercalcaemia (IIH) is an autosomal recessively inherited disease, presented in the first year of life with hypercalcaemia, precipitated by normal amounts of vitamin D supplementation. Recently loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-metaboli...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Oxford University Press
2013
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3811979/ https://ncbi.nlm.nih.gov/pubmed/24175086 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sft008 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|