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Familial hypocalciuric hypercalcaemia type 3: AP2S1 missense mutation
A 45-year-old man was referred to endocrine for the evaluation of hypercalcaemia. The calcium was elevated, vitamin D was low with a normal parathyroid hormone. Dual-energy X-ray absorptiometry scan revealed osteoporosis at the lumbar spine and femoral neck. A 24-hour urine collection revealed low u...
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| Yayımlandı: | BMJ Case Rep |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMJ Publishing Group
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7654107/ https://ncbi.nlm.nih.gov/pubmed/33168530 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-236631 |
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