Article
Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Nov 2018
Akhtar Ali S, Ng C, Votava-Smith J K, Randolph L M, Pitukcheewanont P
Abstract excerpt
Generalized arterial calcification of infancy (GACI) is a rare genetic disorder with high infantile mortality, described to be due to ENPP1, and less commonly ABCC6 mutations. Bisphosphonate treatment has been described to improve survival in ENPP1-positive GACI patients, but few studies have described bisphosphonate treatment in ABCC6-positive patients. Without therapy, patients will die before 6 months of age....
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