期刊
JOURNAL OF INVESTIGATIVE DERMATOLOGY
卷 137, 期 4, 页码 790-795出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jid.2016.12.014
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类别
资金
- NIH/NIAMS [R13AR070643]
- PXE International
- Jefferson Institute of Molecular Medicine
Pseudoxanthoma elasticum is a prototype of heritable ectopic mineralization disorders, with phenotypic overlap with generalized arterial calcification of infancy and arterial calcification due to CD73 deficiency. Recent observations have suggested that the reduced inorganic pyrophosphate/phosphate ratio is the cause of soft connective tissue mineralization in these disorders. PXE International, a patient advocacy organization, supports research in part by sponsoring biennial research symposia on these disorders; the latest meeting was held in September 2016 at Thomas Jefferson University, Philadelphia. This report summarizes the progress in pseudoxanthoma elasticum and other ectopic mineralization disorders, as presented in the symposium, with focus on translational aspects of precision medicine toward improved diagnostics and treatment development for these currently intractable disorders.
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