ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency
Ferreira C, Carpenter T, Braddock D. ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency. Annual Review Of Pathology Mechanisms Of Disease 2023, 19: 507-540. PMID: 37871131, PMCID: PMC11062289, DOI: 10.1146/annurev-pathmechdis-051222-121126.Peer-Reviewed Original ResearchGeneral medical populationENPP1 deficiencyMedical populationsEctonucleotide pyrophosphatase/phosphodiesteraseSoft tissue diseaseEarly-onset osteoporosisMiddle-aged adultsClinical presentationTissue diseaseVascular calcificationArterial calcificationBedside developmentRare diseaseMineralization disordersLarge arteriesPyrophosphatase/phosphodiesteraseClinical phenotypeExtracellular ATPSoft tissuePathophysiologyAdenosine monophosphateDiseaseCalcificationTransmembrane glycoproteinDeficiency