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- Title
Calcium and vitamin D metabolism in hypocalcemic vitamin D-resistant rickets carriers.
- Authors
Nicolaidou, Polyxeni; Papadopoulou, Anna; Georgouli, Helen; Matsinos, Y G; Tsapra, Helen; Fretzayas, Andreas; Giannoulia-Karantana, Aglaia; Kitsiou, Sophia; Douros, Konstantinos; Papassotiriou, Ioannis; Chrousos, Georges P
- Abstract
Hypocalcemic vitamin D-resistant rickets (HVDRR) is a rare monogenic autosomal recessive disorder associated with mutations in the gene of the vitamin D receptor (VDR), the mediator of 1,25(OH)2D3 action. Although many investigations have discussed the clinical manifestations and molecular etiology of this disease, only a few have investigated the biochemical and hormonal status of heterozygous HVDRR. The aim of the current work was to investigate the profile of selected biochemical and hormonal parameters related to the vitamin D endocrine system in a large number of HVDRR heterozygotes.
- Publication
Hormone research, 2006, Vol 65, Issue 2, p83
- ISSN
0301-0163
- Publication type
Journal Article
- DOI
10.1159/000091043