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2 BCC6 gene cause soft-tissue calcification in pseudoxanthoma elasticum (PXE) and, in some patients, ge
3 iations cause the calcification phenotype of pseudoxanthoma elasticum (PXE) as well as some cases of
22 rformed linkage analysis on 21 families with pseudoxanthoma elasticum (PXE) using 10 polymorphic mark
23 cular fundus abnormalities characteristic of pseudoxanthoma elasticum (PXE) were detected by cSLO in
24 cause of a relatively frequent inborn error, pseudoxanthoma elasticum (PXE), a disorder resulting in
25 ecular basis and pathomechanistic details in pseudoxanthoma elasticum (PXE), a heritable multisystem
36 ients with angioid streaks (AS) secondary to pseudoxanthoma elasticum (PXE), and to introduce a clini
37 A), Stargardt disease (STGD1), Best disease, pseudoxanthoma elasticum (PXE), central areolar choroida
39 cular fundus abnormalities characteristic of pseudoxanthoma elasticum (PXE), including peau d'orange,
42 To better understand the pathogenetics of pseudoxanthoma elasticum (PXE), we performed a mutationa
44 f all Vanderbilt Eye Institute patients with pseudoxanthoma elasticum and at least 1 set of color fun
45 early, is a promising prevention therapy for pseudoxanthoma elasticum and generalized arterial calcif
47 els, resulting in the calcification disorder pseudoxanthoma elasticum and some cases of generalized a
48 nderlie the incurable calcification disorder pseudoxanthoma elasticum and some cases of generalized a
49 f-function mutations in the ABCC6 gene cause pseudoxanthoma elasticum and type 2 generalized arterial
50 ted a series of Abcc6(-/-) rats as models of pseudoxanthoma elasticum depicting ectopic mineralizatio
51 dietary preferences of patients may explain pseudoxanthoma elasticum heterogeneous manifestations, a
54 remains unknown, recent studies showed that pseudoxanthoma elasticum is a metabolic disorder caused
60 mately 200 mutations have been identified in pseudoxanthoma elasticum patients, the underlying struct
62 rter C6) ABC transporter are associated with pseudoxanthoma elasticum, a disease of altered elastic p
63 drug efflux pumps, are the genetic basis of Pseudoxanthoma elasticum, a disease that affects elastin
68 eye (3%) had neovascularization secondary to pseudoxanthoma elasticum, all showing similar ORT format
70 ic atrophy independent of CNV can develop in pseudoxanthoma elasticum, causing significant vision los
71 exemplified by familial tumoral calcinosis, pseudoxanthoma elasticum, generalized arterial calcifica
72 genic disorders of pathologic calcification: pseudoxanthoma elasticum, generalized arterial calcifica
73 ion to mitigate calcification progression in pseudoxanthoma elasticum, that dietary preferences of pa
74 ions in four candidate genes associated with pseudoxanthoma elasticum, the prototype of ectopic miner
76 The fundamental question on pathogenesis of pseudoxanthoma elasticum, whether lack of ABCC6 expressi
79 several months prevented the development of pseudoxanthoma elasticum-like spontaneous calcification,