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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Detalhes bibliográficos
Publicado no:J Bone Miner Res
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Original Articles
Acesso em linha: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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