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Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization

Ectonucleotide phosphatase/phosphodiesterase 1 (ENPP1) deficiency results in either lethal arterial calcifications (‘Generalized Arterial Calcification of Infancy’ – GACI), phosphate wasting rickets (‘Autosomal Recessive Hypophosphatemic Rickets type 2’ – ARHR2), early onset osteoporosis, or progres...

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Dades bibliogràfiques
Publicat a:Bone
Autors principals: Maulding, Nathan D., Kavanagh, Dillon, Zimmerman, Kristin, Coppola, Gianfilippo, Carpenter, Thomas O., Jue, Nathaniel K., Braddock, Demetrios T.
Format: Artigo
Idioma:Inglês
Publicat: 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7744330/
https://ncbi.nlm.nih.gov/pubmed/32980560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2020.115656
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