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Vitamin D–Binding Protein Deficiency and Homozygous Deletion of the GC Gene

A 58-year-old woman with debilitating ankylosing spondylitis who was born to consanguineous parents was found to have an apparent severe vitamin D deficiency that did not respond to supplementation. Liquid chromatography–tandem mass spectrometry showed the absence of circulating vitamin D–binding pr...

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Библиографические подробности
Опубликовано в: :N Engl J Med
Главные авторы: Henderson, Clark M., Fink, Susan L., Bassyouni, Hanan, Argiropoulos, Bob, Brown, Lindsay, Laha, Thomas J., Jackson, Konner J., Lewkonia, Raymond, Ferreira, Patrick, Hoofnagle, Andrew N., Marcadier, Julien L.
Формат: Artigo
Язык:Inglês
Опубликовано: 2019
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7898410/
https://ncbi.nlm.nih.gov/pubmed/30893535
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1807841
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