Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies
Sign Up to like & getrecommendations! 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
Severe early‐onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate
Sign Up to like & getrecommendations! Published in 2019 at "British Journal of Dermatology"
DOI: 10.1111/bjd.18632
Abstract: Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by fragmentation and progressive calcification of elastic fibres in connective tissues. Overlap has been reported between the inherited PXE phenotype associated with ENPP1, ABCC6 or NT5E mutations… read more here.
Keywords: thiosulfate; early onset; pxe; severe early ... See more keywords