Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D catabolizing enzyme 25-hydroxyvitamin D(3)-24-hydroxylase (CYP24A1) were described that lead to increased sensit...

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Опубликовано в: :J Am Soc Nephrol
Главные авторы: Schlingmann, Karl P., Ruminska, Justyna, Kaufmann, Martin, Dursun, Ismail, Patti, Monica, Kranz, Birgitta, Pronicka, Ewa, Ciara, Elzbieta, Akcay, Teoman, Bulus, Derya, Cornelissen, Elisabeth A.M., Gawlik, Aneta, Sikora, Przemysław, Patzer, Ludwig, Galiano, Matthias, Boyadzhiev, Veselin, Dumic, Miroslav, Vivante, Asaf, Kleta, Robert, Dekel, Benjamin, Levtchenko, Elena, Bindels, René J., Rust, Stephan, Forster, Ian C., Hernando, Nati, Jones, Glenville, Wagner, Carsten A., Konrad, Martin
Формат: Artigo
Язык:Inglês
Опубликовано: American Society of Nephrology 2016
Предметы:
Clinical Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4731111/
https://ncbi.nlm.nih.gov/pubmed/26047794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2014101025
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