Autosomal Dominant Hypocalcemia With Atypical Urine Findings Accompanied by Novel CaSR Gene Mutation and VitD Deficiency

INTRODUCTION: Autosomal dominant hypocalcemia (ADH) is caused by gain-of-function mutations of the calcium sensing receptor (CaSR). It is characterized by hypercalciuria in spite of hypocalcemia. Vitamin D deficiency increases calcium reabsorption in the distal tubules of the kidneys, resulting in h...

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Bibliografiske detaljer
Udgivet i:J Endocr Soc
Main Authors: Tsuji, Tomoya, Hiroyuki, Ariyasu, Uraki, Shinsuke, Doi, Asako, Morita, Shuhei, Iwakura, Hiroshi, Nishi, Masahiro, Furuta, Hiroto, Akamizu, Takashi
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2020
Fag:
Clinical Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7814383/
https://ncbi.nlm.nih.gov/pubmed/33506158
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa190
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