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139 results

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Quoted phrase not found in phrase index: "Pseudoxanthoma elasticum, forme fruste"
Page 1
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q. Saeidian AH, et al. Genet Med. 2022 Jan;24(1):75-86. doi: 10.1016/j.gim.2021.08.011. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906475 Free PMC article.
A total of 159 distinct variants were identified in 425 patients in ABCC6, the gene responsible for pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder. The interpretation of variant pathogenicity relying on bioinformatic predictions …
A total of 159 distinct variants were identified in 425 patients in ABCC6, the gene responsible for pseudoxanthoma elasticum, …
Pseudoxanthoma elasticum.
Laube S, Moss C. Laube S, et al. Arch Dis Child. 2005 Jul;90(7):754-6. doi: 10.1136/adc.2004.062075. Arch Dis Child. 2005. PMID: 15970621 Free PMC article. Review.
Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of elastic fibres. ...The skin changes are usually apparent in adulthood, and rarely observed in childhood. Since the prognosis of PXE l …
Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of …
Pseudoxanthoma elasticum and sudden death.
Combrinck M, Gilbert JD, Byard RW. Combrinck M, et al. J Forensic Sci. 2011 Mar;56(2):418-22. doi: 10.1111/j.1556-4029.2010.01647.x. Epub 2011 Jan 6. J Forensic Sci. 2011. PMID: 21210805 Review.
Pseudoxanthoma elasticum (PXE) is a generalized connective tissue disorder in which there is calcification of elastic fibers within arteries, eyes, and skin. ...
Pseudoxanthoma elasticum (PXE) is a generalized connective tissue disorder in which there is calcification of elastic fibers w …
Case Report: Pseudoxanthoma elasticum.
Lucas C, Aranha J, da Rocha I, Sousa D. Lucas C, et al. F1000Res. 2020 Jan 9;9:9. doi: 10.12688/f1000research.21431.1. eCollection 2020. F1000Res. 2020. PMID: 32742638 Free PMC article.
Pseudoxanthoma elasticum (PXE) is a rare inherited disorder, characterised by a progressive mineralization and fragmentation of elastic fibres of the skin, retina and cardiovascular system. ...PXE is currently an incurable disease and has a favourable prognosis …
Pseudoxanthoma elasticum (PXE) is a rare inherited disorder, characterised by a progressive mineralization and fragmentation o …
Pseudoxanthoma elasticum, ocular manifestations, complications and treatment.
Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I. Georgalas I, et al. Clin Exp Optom. 2011 Mar;94(2):169-80. doi: 10.1111/j.1444-0938.2010.00559.x. Epub 2010 Dec 29. Clin Exp Optom. 2011. PMID: 21198842 Free article. Review.
Pseudoxanthoma elasticum (PXE), also known as Groenblad syndrome, is an inherited disorder characterised by mineralisation and fragmentation of elastic fibres in a number of organs including the skin, eyes and arterial blood vessels. The clinical manifestations of P …
Pseudoxanthoma elasticum (PXE), also known as Groenblad syndrome, is an inherited disorder characterised by mineralisation and …
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK. Heath Jeffery RC, et al. Surv Ophthalmol. 2024 Jan-Feb;69(1):1-23. doi: 10.1016/j.survophthal.2023.07.007. Epub 2023 Aug 6. Surv Ophthalmol. 2024. PMID: 37544613 Free article. Review.
MNV is a well-known complication of Sorsby fundus dystrophy and pseudoxanthoma elasticum. Those with late-onset Stargardt disease may masquerade as exudative age-related macular degeneration (AMD) when MNV is the presenting feature. Peripherinopathies may develop MN …
MNV is a well-known complication of Sorsby fundus dystrophy and pseudoxanthoma elasticum. Those with late-onset Stargardt dise …
ANGIOID STREAKS: A Comprehensive Review From Pathophysiology to Treatment.
Chatziralli I, Saitakis G, Dimitriou E, Chatzirallis A, Stoungioti S, Theodossiadis G, Theodossiadis P. Chatziralli I, et al. Retina. 2019 Jan;39(1):1-11. doi: 10.1097/IAE.0000000000002327. Retina. 2019. PMID: 30260918 Review.
RESULTS: Angioid streaks are crack-like dehiscences of Bruch membrane, which may coexist with systemic diseases, such as pseudoxanthoma elasticum, Paget disease, Ehlers-Danlos syndrome, hemoglobinopathies, or other diseases of the collagen. ...
RESULTS: Angioid streaks are crack-like dehiscences of Bruch membrane, which may coexist with systemic diseases, such as pseudoxanthoma …
Cannabis arteritis.
Combemale P, Consort T, Denis-Thelis L, Estival JL, Dupin M, Kanitakis J. Combemale P, et al. Br J Dermatol. 2005 Jan;152(1):166-9. doi: 10.1111/j.1365-2133.2005.06340.x. Br J Dermatol. 2005. PMID: 15656820
The main causes of arteriopathy in young patients include drugs, metabolic diseases, pseudoxanthoma elasticum and Buerger's disease. Arteritis due to Cannabis indica was first reported in 1960, and the role of this drug as a risk factor for arteritis was confirmed i …
The main causes of arteriopathy in young patients include drugs, metabolic diseases, pseudoxanthoma elasticum and Buerger's di …
Pseudoxanthoma elasticum.
Neldner KH. Neldner KH. Clin Dermatol. 1988 Jan-Mar;6(1):1-159. doi: 10.1016/0738-081x(88)90003-x. Clin Dermatol. 1988. PMID: 3359381 No abstract available.
Pseudoxanthoma elasticum.
Neldner KH. Neldner KH. Int J Dermatol. 1988 Mar;27(2):98-100. doi: 10.1111/j.1365-4362.1988.tb01280.x. Int J Dermatol. 1988. PMID: 3360560 No abstract available.
139 results