We summarize here lessons learned from studies on skeletal and extra-skeletal functions of
vitamin D in hereditary 1, 25-dihydroxyvitamin D–resistant rickets (HVDRR) patients with a …

Context: Previous studies have reported an association between vitamin D deficiency and
asthma. Hereditary 1, 25-dihydroxyvitamin D-resistant rickets (HVDRR) patients provide a …

Abstract Background: Hereditary 1, 25-dihydroxyvitamin D-resistant rickets (HVDRR) is
caused by mutations in the vitamin D receptor gene. Children with HVDRR suffer from …

Vitamin D is important in skeletal development and in bone mineralization. The active form
of vitamin D, 1α, 25-dihydroxyvitamin D,[1, 25 (OH) 2 D], binds with high affinity to the vitamin …

Adding to the debate around vitamin D's effects on skeletal health, we report the long-term
follow-up of two patients with severe vitamin D receptor mutations, who had normal bone …

Vitamin D receptor (VDR) is a member of the nuclear receptor superfamily. It is a primary
regulator of calcium and phosphate homeostasis required for skeleton and bone …

We present a brother and sister with severe rickets, alopecia and highly elevated serum
levels of 1, 25-dihydroxyvitamin D (1, 25-(OH) 2 D 3). Genomic sequencing showed a …

Hereditary vitamin D-resistant rickets (HVDRR) is caused by heterogeneous inactivating
mutations in the vitamin D receptor (VDR). Treatment of HVDRR patients with high doses of …

Background/Aims: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a rare monogenic
autosomal recessive disorder associated with mutations in the gene of the vitamin D …

Hereditary vitamin D receptor defects (HVDRDs) is a more appropriate and precise title for
an inborn error of metabolism commonly known as pseudo‐vitamin D deficiency or vitamin …