Article
Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation.
The Journal of steroid biochemistry and molecular biology - 1 Apr 2021
Kowalska Ewa, Rola Rafał, Wójcik Marek, Łaszcz Natalia, Płudowski Paweł, Wierzbicka Aldona, Janiec Agnieszka, Książyk Janusz, Halat Paulina, Ciara Elżbieta, Obrycki Łukasz, Pronicka Ewa, Litwin Mieczysław
Abstract excerpt
Infantile hypercalcemia (IH), is a rare disorder caused by CYP24A1 or SLC34A1 variants which lead to disturbed catabolism of 25(OH)D3 and 125(OH)2D3 or increased generation of 125(OH)2D3. AIM OF STUDY: To assess the status of 2425(OH)2D3 and other markers of vitamin D in IH survivors, in whom variants of CYP24A1 or SLC34A1 gene were found and to compare these unique biochemical features with those obtained from...
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