Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations

BACKGROUND: Infantile hypercalcaemia (IH) is a vitamin D(3) metabolism disorder. The molecular basis for IH is biallelic mutations in the CYP24A1 or SLC34A1 gene. These changes lead to catabolism disorders (CYP24A1 mutations) or excessive generation of 1,25-dihydroxyvitamin D(3) [1,25(OH)(2)D(3)] (S...

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Detalles Bibliográficos
Autores principales: Janiec, Agnieszka, Halat-Wolska, Paulina, Obrycki, Łukasz, Ciara, Elżbieta, Wójcik, Marek, Płudowski, Paweł, Wierzbicka, Aldona, Kowalska, Ewa, Książyk, Janusz B, Kułaga, Zbigniew, Pronicka, Ewa, Litwin, Mieczysław
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8311581/
https://www.ncbi.nlm.nih.gov/pubmed/33099630
http://dx.doi.org/10.1093/ndt/gfaa178

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8311581/
https://www.ncbi.nlm.nih.gov/pubmed/33099630
http://dx.doi.org/10.1093/ndt/gfaa178

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