January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
May 2025 in “Hormone Research in Paediatrics” This case study described a girl with vitamin D-dependent rickets type 2A who developed long-standing tertiary hyperparathyroidism, yet this did not hinder the healing of her rickets or normalization of hypophosphatemia; high doses of intravenous calcium were pivotal for recovery.
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April 2006 in “Annals of the New York Academy of Sciences” This study found that preventing abnormal mineral ion homeostasis in vitamin D receptor knockout mice stopped bone abnormalities, while the animal's skin phenotype arose from direct receptor effects independent of vitamin D.
110 citations
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November 1984 in “The American Journal of Medicine” This study observed that children with a genetically transmitted defect in the 1,25-dihydroxyvitamin D3 receptor experienced spontaneous healing of rickets as they aged, despite persistent mineral imbalances during treatment.
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December 2006 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses the multifaceted role of vitamin D in the body, noting its influence on calcium balance, hair cycle maintenance, cell proliferation, cardiovascular function, and immune modulation, with no new clinical results reported.