Bile Acid Synthesis Disorder Masquerading as Intractable Vitamin D-Deficiency Rickets

Vitamin D-deficiency rickets, not responding to large treatment doses of oral vitamin D, suggest rare receptor mutations, malabsorption, or hepatobiliary dysfunction. We present a set of twins of Hispanic origin who presented with refractory vitamin D-deficiency rickets and failure to thrive (FTT) a...

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Bibliografiska uppgifter
I publikationen:J Endocr Soc
Huvudupphovsmän: Ahmad, Osman, Nogueira, Janaina, Heubi, James E, Setchell, Kenneth D R, Ashraf, Ambika P
Materialtyp: Artigo
Språk:Inglês
Publicerad: Endocrine Society 2018
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6364623/
https://ncbi.nlm.nih.gov/pubmed/30746501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2018-00314
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