Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency

Biallelic ENPP1 deficiency in humans induces generalized arterial calcification of infancy (GACI) and/or autosomal recessive hypophosphatemic rickets type 2 (ARHR2). The latter is characterized by markedly increased circulating FGF23 levels and renal phosphate wasting, but aberrant skeletal manifest...

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Bibliografiska uppgifter
I publikationen:J Bone Miner Res
Huvudupphovsmän: Oheim, Ralf, Zimmerman, Kristin, Maulding, Nathan D, Stürznickel, Julian, von Kroge, Simon, Kavanagh, Dillon, Stabach, Paul R, Kornak, Uwe, Tommasini, Steven M, Horowitz, Mark C, Amling, Michael, Thompson, David, Schinke, Thorsten, Busse, Björn, Carpenter, Thomas O., Braddock, Demetrios T
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley & Sons, Inc. 2019
Ämnen:
Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7184798/
https://ncbi.nlm.nih.gov/pubmed/31805212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3911
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