Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives
Sign Up to like & getrecommendations! Published in 2018 at "Nucleus"
DOI: 10.1080/19491034.2018.1456217
Abstract: Abstract Mutations in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and premature ageing syndromes. LMNA mutations have been shown to alter nuclear structure and stiffness, binding to partners at the… read more here.
Keywords: syndromes due; recent developments; mutations recent; due lmna ... See more keywords
Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-019-1141-2
Abstract: BackgroundAlthough metreleptin replacement therapy was shown to improve metabolic alterations in lipodystrophic syndromes, patients’ adherence and satisfaction with treatment have never been evaluated. The 20 patients with lipodystrophic syndromes participating in the French compassionate program… read more here.
Keywords: satisfaction; patients lipodystrophic; metreleptin therapy; self ... See more keywords