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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7184798/
https://www.ncbi.nlm.nih.gov/pubmed/31805212
http://dx.doi.org/10.1002/jbmr.3911

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