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

doi:10.1002/jbmr.3911

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Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2020

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

Abstract excerpt

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 manifestations associated with heterozygous ENPP1 deficiency are unknown. Here, we report three adult men with early onset...

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PMID: 31805212
DOI: 10.1002/jbmr.3911
PMCID: PMC7184798

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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