Results 101 to 110 of about 4,370 (200)

Pseudoxanthoma elasticum: potential involvement of the ABC transporter ABCC6 in human cellular cholesterol and lipoprotein metabolism

, 2014
Kuzaj P. Pseudoxanthoma elasticum: potential involvement of the ABC transporter ABCC6 in human cellular cholesterol and lipoprotein metabolism.
Kuzaj, Patricia
core  

Angioid streaks, clinical course, complications, and current therapeutic management

Therapeutics and Clinical Risk Management, 2008
Ilias Georgalas1, Dimitris Papaconstantinou2, Chrysanthi Koutsandrea2, George Kalantzis2, Dimitris Karagiannis2, Gerasimos Georgopoulos2, Ioannis Ladas21Department of Ophthalmology, “G.
Ilias Georgalas, Dimitris Papaconstantinou, Chrysanthi Koutsandrea, George Kalantzis, Dimitris Karagiannis, et al   +5 more
doaj  

Pseudoxanthoma elasticum-like papillary dermal elastolysis; A report of two cases and a literature review [PDF]

Pseudoxanthoma elasticum-like papillary dermal elastolysis is a rare, benign, acquired, gradually-developing chronic elastic tissue disorder that almost exclusively affects post-menopausal women. It is essential to recognize this disease as it mimics the
Murshidi, Rand, Bani Hamad, Salsabiela, Al-Tarawneh, Awad, Murshidi, Rand ; Bani Hamad, Salsabiela ; Al-Tarawneh, Awad   +3 more
core   +1 more source

Periumbilical perforating pseudoxanthoma elasticum in a young male patient

, 2019
Periumbilical perforating pseudoxanthoma elasticum is a rare acquired disorder of connective tissue. It has been suggested that repeated traumas of pregnancy, obesity, or abdominal surgery promote localized degeneration of elastic fibers.
최유원, 명기범, 최혜영, 변지연   +3 more
core   +1 more source

Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum.

, 2019
Pseudoxanthoma elasticum, a prototype of heritable multisystem ectopic mineralization disorders, is caused by mutations in the ABCC6 gene encoding a putative efflux transporter, ABCC6.
Wiles, Michael V, Philip, Vivek M, Uitto, Jouni, Bubier, Jason A, Stearns, Timothy M, Sundberg, John P, Sundberg, Beth A, Li, Qiaoli, Low, Benjamin E, King, Benjamin L, Saeidian, Amir Hossein   +10 more
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Pseudoxanthoma elasticum [PDF]

Postgraduate Medical Journal, 2004
A C, Inamadar, A, Palit
openaire   +2 more sources

Formation of pannus on prosthetic valves in a child with pseudoxanthoma elasticum

, 2002
A child with pseudoxanthoma elasticum had mitral valvar prolapse with severe regurgitation necessitating replacement with a prosthetic valve. Extensive formation of pannus caused obstruction of two mechanical valves, one after twenty months and the ...
Radford, DJ, Pohlner, PG
core   +1 more source

Ocular Manifestations Among Thalassemia Patients Presenting to Tertiary Care Hospital in Jammu Region

JK Science
Background: Thalassemia patients present with different types of ocular manifestations. These can be due to the disease process itself or due to iron chelation therapy. Aims: This study aims to find out the ocular manifestations in thalassemia patients
Sonika Syal, Rukhsana Kousar, Riya Gupta, Hans Raj Sharma, Manpreet Kaur   +4 more
doaj  

When the eye leads to the diagnosis of pseudoxanthoma elasticum: a case revealed by angioid streaks and choroidal neovascularisation

Dermatology Reports
Dear Editor, Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in the ABCC6 gene, resulting in progressive calcification and fragmentation of elastic fibres involving the skin, retina, and ...
Laura Grigolato, Nicola Baga, Francesco Tonon, Simone Soglia, Cesare Ariasi, Sara Mezzana, Anna Cancarini, Luigi Mori, Iacopo Ghini, Mariateresa Rossi, Marina Venturini, Mariachiara Arisi, Piergiacomo Calzavara-Pinton   +12 more
doaj   +1 more source

An atypical presentation of pseudoxanthoma elasticum (PXE) without angioid streaks or peau d’orange

, 2018
 Pseudoxanthoma Elasticum (PXE) is an inherited multi-system disorder with potentially fatal complications.  Biallelic mutations in the ABCC6 gene, which encodes an ATP-binding cassette transporter, have been identified to underlie this disease ...
Omar, Amer, Rajendram, Ranjan, Paige, David, Cerio, Rino, Pefkianaki, Maria, Chan, Choi Mun, Michaelides, Michel   +6 more
core   +1 more source