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Pseudoxanthoma elasticum.
Roach ES, Islam MP. Roach ES, et al. Handb Clin Neurol. 2015;132:215-21. doi: 10.1016/B978-0-444-62702-5.00015-9. Handb Clin Neurol. 2015. PMID: 26564082 Review.
Pseudoxanthoma elasticum (PXE) is characterized by elastic tissue fragmentation and calcification. ...A skin biopsy often demonstrates calcified elastic fibers, even in a mildly affected area of skin. The inheritance is autosomal recessive, alth
Pseudoxanthoma elasticum (PXE) is characterized by elastic tissue fragmentation and calcification. ...A skin biopsy often demo
Pseudoxanthoma elasticum.
Germain DP. Germain DP. Orphanet J Rare Dis. 2017 May 10;12(1):85. doi: 10.1186/s13023-017-0639-8. Orphanet J Rare Dis. 2017. PMID: 28486967 Free PMC article. Review.
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. ...
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused
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. ...The prevalence in the general population varies widely from 1/70,000 to 1/160,000. PXE has an autosoma
Pseudoxanthoma elasticum (PXE) is a generalized connective tissue disorder in which there is calcification of elastic fibers w
ABCC6 and pseudoxanthoma elasticum.
Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG. Bergen AA, et al. Pflugers Arch. 2007 Feb;453(5):685-91. doi: 10.1007/s00424-005-0039-0. Epub 2006 Apr 8. Pflugers Arch. 2007. PMID: 16604369 Review.
Recently, it was shown that loss of function mutations in ABCC6 cause pseudoxanthoma elasticum (PXE) [Bergen et al. (2000) 25:228-2231; Le Saux et al. (2000) 25:223-227]. PXE is an autosomal recessively inherited multi-organ disorder [Goodman et …
Recently, it was shown that loss of function mutations in ABCC6 cause pseudoxanthoma elasticum (PXE) [Bergen et al. (2000) 25: …
[Pseudoxanthoma elasticum].
Ladewig MS, Götting C, Szliska C, Issa PC, Helb HM, Bedenicki I, Scholl HP, Holz FG. Ladewig MS, et al. Ophthalmologe. 2006 Jun;103(6):537-51; quiz 552-3. doi: 10.1007/s00347-006-1353-4. Ophthalmologe. 2006. PMID: 16763870 Review. German.
Pseudoxanthoma elasticum (PXE) is an inherited disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vessel walls, and Bruch's membrane. ...There is no causal therapy. Recent studies suggest that PXE is inh
Pseudoxanthoma elasticum (PXE) is an inherited disorder that is associated with accumulation of mineralized and fragmen
Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches.
Finger RP, Charbel Issa P, Ladewig MS, Götting C, Szliska C, Scholl HP, Holz FG. Finger RP, et al. Surv Ophthalmol. 2009 Mar-Apr;54(2):272-85. doi: 10.1016/j.survophthal.2008.12.006. Surv Ophthalmol. 2009. PMID: 19298904 Review.
Pseudoxanthoma elasticum (PXE) is an inherited disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Bruch's membrane in the eye. ...There is yet no definitive therapy. Recent studies sugge
Pseudoxanthoma elasticum (PXE) is an inherited disorder that is associated with accumulation of mineralized and fragmen
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.
Inherited retinal diseases (IRDs) are the most common cause of blindness in working-age adults. ...MNV is a well-known complication of Sorsby fundus dystrophy and pseudoxanthoma elasticum. Those with late-onset Stargardt disease may masquerade as exudative ag
Inherited retinal diseases (IRDs) are the most common cause of blindness in working-age adults. ...MNV is a well-known complication o
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G, Laurain A, Aranyi T, Szeri F, Fulop K, Le Saux O, Duranton C, Kauffenstein G, Martin L, Lefthériotis G. Favre G, et al. Int J Mol Sci. 2017 Sep 11;18(9):1941. doi: 10.3390/ijms18091941. Int J Mol Sci. 2017. PMID: 28891970 Free PMC article. Review.
Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. ...
Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance
Monogenic vessel diseases related to ischemic stroke: a clinical approach.
Ballabio E, Bersano A, Bresolin N, Candelise L. Ballabio E, et al. J Cereb Blood Flow Metab. 2007 Oct;27(10):1649-62. doi: 10.1038/sj.jcbfm.9600520. Epub 2007 Jun 20. J Cereb Blood Flow Metab. 2007. PMID: 17579657 Free article. Review.
The following monogenic disorders are considered: cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal-recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy, hereditary endotheli …
The following monogenic disorders are considered: cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencepha …
Does autosomal dominant pseudoxanthoma elasticum exist?
Plomp AS, Hu X, de Jong PT, Bergen AA. Plomp AS, et al. Am J Med Genet A. 2004 May 1;126A(4):403-12. doi: 10.1002/ajmg.a.20632. Am J Med Genet A. 2004. PMID: 15098239 Review.
Pseudoxanthoma elasticum (PXE) is a progressive disorder of elastic fibers in skin, eyes, and arterial walls. ...Most patients are sporadic cases. The majority of familial cases show autosomal recessive (AR) inheritance, but autosomal dom
Pseudoxanthoma elasticum (PXE) is a progressive disorder of elastic fibers in skin, eyes, and arterial walls. ...Most patients
16 results