Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/NaPi-IIc can be Masked by Vitamin D Deficiency and can be Associated with Renal Calcifications

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is caused by mutations in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. Despite increased urinary calcium excretion, HHRH is typically not associated with kidney stones prior to treatment. However, here w...

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Detalhes bibliográficos
Publicado no:Exp Clin Endocrinol Diabetes
Main Authors: Kremke, B., Bergwitz, C., Ahrens, W., Schütt, S., Schumacher, M., Wagner, V., Holterhus, P.-M., Jüppner, H., Hiort, O.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4777409/
https://ncbi.nlm.nih.gov/pubmed/18523928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-2008-1076716
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