January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
May 2025 in “Hormone Research in Paediatrics” Persistent hyperparathyroidism doesn't stop rickets healing or phosphate level normalization in VDDR2A.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
111 citations
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April 2006 in “Annals of the New York Academy of Sciences” Vitamin D receptor is essential for healthy bones and skin.
110 citations
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November 1984 in “The American Journal of Medicine” A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.