Results 111 to 120 of about 6,809 (242)
Frontiers in Genetics, 2012 Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause pseudoxanthoma elasticum (PXE).
Yvonne eNitschke, Frank eRutsch
doaj +1 more source
A Case of Pseudoxanthoma-elasticum-like Papillary Dermal Elastolysis [PDF]
, 2006 Pseudoxanthoma elasticum-Like papillary dermal elastolysis is a disorder of the dermis, characterized by clinical features similar to pseudoxanthoma elasticum and the pathologic features of elastolysis limited to the papillary dermis, such as sun ...
이주희, 이광훈
core
Mitral valve prolapse in healthy relatives of patients with familial Pseudoxanthoma elasticum
, 2000 The presence of mitral valve prolapse in 2 of 3 patients with pseudoxanthoma elasticum confirms this frequent association. However, the most interesting finding was that 2 of 5 apparently unaffected subjects also had mitral valve prolapse, suggesting ...
BARDELLI A. M. +5 more
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Plasma inorganic pyrophosphate and alkaline phosphatase in patients with pseudoxanthoma elasticum.
Annals of Translational Medicine, 2019 Background Inorganic pyrophosphate (PPi) plays a major role inhibiting dystrophic calcification. The aim was to analyze levels of PPi in patients having pseudoxanthoma elasticum (PXE), and controls as well as the enzymes who regulate the PPi plasma ...
A. M. Sánchez-Tévar +9 more
semanticscholar +1 more source
Pseudoxanthoma Elasticum Treatment with Fractional CO2 Laser
Plastic and Reconstructive Surgery, Global Open, 2014 Summary: Pseudoxanthoma elasticum (PE) is a rare genetic disease characterized by calcification and fragmentation of elastic fibers of the skin, retina, and cardiovascular system.
Alessandra Grassi Salles, MD, PhD +5 more
doaj +1 more source
Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions.
, 2014 We report a rare case of a patient with AL amyloidosis and pseudoxanthoma elasticum skin lesions. An association between these two diseases has been previously described as amyloid elastosis in only six cases, but cardiac findings were not fully ...
VOLPE, Massimo +7 more
core +1 more source
, 2011 Objective: Case report of a patient with angioid streaks, peau d’orange, comet tail lesions, choroidal neovascularisation and presumed pseudoxanthoma elasticum (PXE). PXE was confirmed by gene analysis but not by skin biopsies.
Leys, Anita +5 more
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Pseudoxanthoma Elasticum [PDF]
Proceedings of the Royal Society of Medicine, 1965 R B, Fountain, D, Bett
openaire +5 more sources
British Journal of Dermatology, 2019 Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by fragmentation and progressive calcification of elastic fibres in connective tissues.
L. Omarjee +12 more
semanticscholar +1 more source