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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Am Soc Nephrol
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: American Society of Nephrology 2016
Θέματα:
Clinical Research
Διαθέσιμο Online: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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