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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Detalhes bibliográficos
Publicado no:Nephrol Dial Transplant
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8311581/
https://ncbi.nlm.nih.gov/pubmed/33099630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gfaa178
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