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Pseudoxanthoma Elasticum

Pseudoxanthoma Elasticum diagram by British Association of Dermatology
British Association of Dermatology

Pseudoxanthoma elasticum is a genetic disorder caued by mutations in the ATP-binding cassette sub-family C member 6 gene (ABCC6) and is characterized by lax skin and retinal hemorrhages. Discover the latest research on pseudoxanthoma elasticum here.

Top 20 most recent papers
Indian Journal of Dermatology

Pompholyx-Like Eruptions Induced by Penicillamine in a Patient with Wilson's Disease

Indian Journal of DermatologySeptember 14, 2019
Diana Elizabeth DevassyHarshad Devarbhai
Scientific Reports

Evidence of Cardiovascular Calcification and Fibrosis in Pseudoxanthoma Elasticum Mouse Models Subjected to DOCA-Salt Hypertension

Scientific ReportsNovember 8, 2019
Loukman OmarjeeGilles Kauffenstein
Journal of the American Academy of Dermatology

Magnesium supplementation in the treatment of pseudoxanthoma elasticum: A randomized trial

Journal of the American Academy of DermatologyMarch 4, 2019
Sharon RoseMark G. Lebwohl
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5
1
International Journal of Molecular Sciences

The Role of Vitamin K and Its Related Compounds in Mendelian and Acquired Ectopic Mineralization Disorders

International Journal of Molecular SciencesApril 30, 2019
Lukas NolletOlivier O M Vanakker
The British Journal of Ophthalmology

Retinal findings in carriers of monoallelic ABCC6 mutations

The British Journal of OphthalmologyMarch 28, 2019
Martin GliemPeter Charbel Issa
2
6
Bone

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia

BoneMarch 3, 2019
Michael P WhyteAndrew J Bierhals
1
4
Advances in Experimental Medicine and Biology

Inborn Errors of Metabolism: Pseudoxanthoma Elasticum

Advances in Experimental Medicine and BiologyDecember 24, 2018
Stephen H. Tsang, Tarun D Sharma
Pediatric Dermatology

Classic pseudoxanthoma elasticum in a girl with sickle cell disease

Pediatric DermatologyDecember 12, 2018
Victoria MitreRaegan D Hunt
The British Journal of Dermatology

Severe Early-Onset Manifestations of Pseudoxanthoma Elasticum Resulting from the Cumulative Effects of Several Deleterious Mutations in the ENPP1, ABCC6 and HBB Genes: Transient Improvement in Ectopic Calcification with Sodium Thiosulfate

The British Journal of DermatologyOctober 24, 2019
Loukman OmarjeeLudovic Martin
1
The Journal of Investigative Dermatology

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

The Journal of Investigative DermatologyJune 18, 2019
Qiao-Li LiJohn P Sundberg
JAMA Ophthalmology

Acute Retinopathy in Pseudoxanthoma Elasticum

JAMA OphthalmologyAugust 8, 2019
Martin GliemPeter Charbel Issa
14
2
4
Ophthalmic Genetics

Intraretinal hyperreflective foci in PXE-related retinopathy with acquired vitelliform lesions: a long-term follow-up

Ophthalmic GeneticsSeptember 21, 2019
Vittoria MurroStanislao Rizzo
JAMA Ophthalmology

Potentially Novel Acute Retinopathy Similar to Multiple Evanescent White Dot Syndrome in Patients With Pseudoxanthoma Elasticum

JAMA OphthalmologyAugust 8, 2019
Andre J Witkin
6
1
1
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie

Anti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle OphthalmologieNovember 25, 2018
Maurizio Battaglia ParodiAlfredo Adán
5
2
bioRxiv

Compound heterozygosity of the gamma-glutamyl carboxylase mutants V255M and S300F causes pseudoxanthoma elasticum-like disease through impaired processivity

bioRxivJune 12, 2019
Mark A. RishavyKathleen L. Berkner
1
Atherosclerosis

Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum

AtherosclerosisOctober 11, 2019
Jonas W BartstraWilko Spiering
Lipids in Health and Disease

Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues

Lipids in Health and DiseaseJanuary 5, 2019
Bettina IboldDoris Hendig
Human Genome Variation

A novel ABCC6 variant causative of pseudoxanthoma elasticum

Human Genome VariationJune 20, 2019
Gianluca ContròRodolfo Iuliano
Ophthalmic Surgery, Lasers & Imaging Retina

Peripheral Linear Streaks in Pseudoxanthoma Elasticum

Ophthalmic Surgery, Lasers & Imaging RetinaDecember 1, 2018
Alessandro MarcheseMaurizio Battaglia Parodi
Dermatology Practical & Conceptual

Dermoscopy, Optical Coherence Tomography, and Histological Correlation of Pseudoxanthoma Elasticum

Dermatology Practical & ConceptualJuly 1, 2019
Flavia PersechinoSeverino Persechino

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