Category Archive: Center for Bone Health

Mar 6 2018

Is an Uncommon Genetic Mutation Linked to Vitamin D-dependent Rickets?

The Findings:

Researchers identified a genetic mutation in CYP3A4 that is linked to vitamin D-dependent rickets (VDDR), a childhood disorder associated with impaired growth and skeletal mineralization. Scientists already knew about two other genetic forms of VDDR, but this third kind is caused by a gain-in-function mutation — a random genetic change that confers a new function on a gene — that leads to accelerated inactivation of vitamin D metabolites. This is a new insight into vitamin D metabolism.

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Jun 19 2014

Early Childhood Bone Density Reference Data Needed

bone densityA study at The Children’s Hospital of Philadelphia aims to establish reference data for children ages 1 to 5 using dual-energy X-ray absorptiometry (DXA), a test that measures bone density.

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