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Pseudoxanthoma Elasticum

Known as: Pseudoxanthoma Elasticum [Disease/Finding], elasticum pseudoxanthoma, ELASTOSIS DYSTROPHICA SYNDROME 
An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and… 
National Institutes of Health

Related topics

Related topics

30 relations
ABCC6 geneAngina PectorisAutosomal recessive inheritanceBladder hemorrhage

Broader (2)

Connective Tissue DiseasesHereditary Diseases

Narrower (3)

Gronblad-Strandberg SyndromePseudoxanthoma Elasticum, IncompletePseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
An update on the ocular phenotype in patients with pseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE) is an inherited multi-system disorder characterized by ectopic mineralization and fragmentation of… 
Highly Cited
2009
Highly Cited
2009
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
A characteristic feature of classic pseudoxanthoma elasticum (PXE), an autosomal recessive disorder caused by mutations in the… 
Highly Cited
2009
Highly Cited
2009
Pseudoxanthoma elasticum is a metabolic disease.
Pseudoxanthoma elasticum (PXE) is a pleiotropic multisystem disorder affecting skin, eyes, and the cardiovascular system with… 
Highly Cited
2007
Highly Cited
2007
The Borexino Collaboration
The Borexino detector measures solar neutrino fluxes via neutrino-electron elastic scattering. Observed spectra are determined by… 
Highly Cited
2007
Highly Cited
2007
Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
Background: Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder with considerable phenotypic variability, mainly… 
Highly Cited
2002
Highly Cited
2002
Markers of oxidative status in plasma and erythrocytes of transition dairy cows during hot season.
The study was carried out to assess whether hot seasons affect the oxidative status of transition dairy cows. Twenty Holstein… 
Highly Cited
2001
Highly Cited
2001
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
To better understand the pathogenetics of pseudoxanthoma elasticum (PXE), we performed a mutational analysis of ATP-binding… 
Highly Cited
1982
Highly Cited
1982
Pseudoxanthoma elasticum and mitral-valve prolapse.
PSEUDOXANTHOMA elasticum is an inherited disorder of connective tissue, with cutaneous, ophthalmologic, and systemic… 
Highly Cited
1978
Highly Cited
1978
Cardiovascular manifestations of Pseudoxanthoma elasticum.
Autopsies were performed in three cases of pseudoxanthoma elasticum (PXE) to evaluate the cardiovascular changes. The endocardial… 
Review
1975
Review
1975
Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum
Re‐examination of published data from affected families with pseudoxanthoma elasticum (PXE) described in the literature between… 
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