Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00439-023-02632-3.pdf
Reference5 articles.
1. Armas LA, Hollis BW, Heaney RP (2004) Vitamin D2 is much less effective than vitamin D3 in humans. J Clin Endocrinol Metab 89:5387–5391
2. Banerjee RR, Spence T, Frank SJ, Pandian R, Hoofnagle AN, Argiropoulos B, Marcadier JL (2021) Very low vitamin D in a patient with a novel pathogenic variant in the GC gene that encodes vitamin D-binding protein. J Endocr Soc 5(9):bvab104. https://doi.org/10.1210/jendso/bvab104
3. Bikle DD, Schwartz J (2019) Vitamin D binding protein, total and free vitamin D levels in different physiological and pathophysiological conditions. Front Endocrinol 10:317. https://doi.org/10.3389/fendo.2019.00317
4. Henderson CM, Fink SL, Bassyouni H, Argiropoulos B, Brown L, Laha TJ, Jackson KJ, Lewkonia R, Ferreira P, Hoofnagle AN, Marcadier JL (2019) Vitamin D-binding protein deficiency and homozygous deletion of the GC gene. N Engl J Med 380(12):1150–1157. https://doi.org/10.1056/NEJMoa1807841
5. Safadi FF, Thornton P, Magiera H, Hollis BW, Gentile M, Haddad JG, Liebhaber SA, Cooke NE (1999) Osteopathy and resistance to vitamin D toxicity in mice null for vitamin D binding protein. J Clin Investig 103(2):239–251. https://doi.org/10.1172/JCI5244
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