Articles with "abcc6 deficiencies" as a keyword



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Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

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Published in 2021 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.4418

Abstract: Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the… read more here.

Keywords: ectopic calcification; abcc6 deficiencies; calcification; hypophosphatemic rickets ... See more keywords