Peer Reviewed Publications


Listed below are research papers published in various scientific journals about or relating to PXE. If you are interested in a copy of the research paper, please contact us.
 

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2016


Dolz-Marco R, Andreu-Fenoll M, Hernández-Martínez P, Pinazo-Durán MD, Gallego-Pinazo R. Automated macular choroidal thickness measurement by swept-source optical coherence tomography in pseudoxanthoma elasticum. Int J Retina Vitreous. 2016 Jun. PubMed PMID: 27847633

Moawad S, Martin L, Liegeon AL, Barbaud A, Schmutz JL, Bursztejn AC. Pseudoxanthoma elasticum and coeliac disease: a fortuitous association? Eur J Dermatol. 2016 Nov 14. PubMed PMID: 27841156.

Pomozi V, Brampton C, Szeri F, Dedinszki D, Kozák E, van de Wetering K, Hopkins H, Martin L, Váradi A, Le Saux O. Functional rescue of ABCC6 deficiency by 4-phenylbutyrate therapy reduces dystrophic calcification in Abcc6(-/-) mice.  J Invest Dermatol. 2016 Nov 5. PubMed PMID: 27826008.

Rasmussen MR, Nielsen KL, Laursen MR, Nielsen CB, Svendsen P, Dimke H, Christensen EI, Johannsen M, Moestrup SK. Untargeted Metabolomics Analysis of ABCC6-Deficient Mice Discloses an Altered Metabolic Liver Profile. J Proteome Res. 2016 Nov 3. PubMed PMID: 27758107.

Nasca MR, Lacarrubba F, Caltabiano R, Verzì AE, Micali G. Perforating pseudoxanthoma elasticum with secondary elastosis perforans serpiginosa-like changes: dermoscopy, confocal microscopy and histopathological correlation. J Cutan Pathol. 2016 Nov. PubMed PMID: 27404989.

Camacho M, Rengel C, López-Herrero E, Carrillo JL, Eslava AJ, Valdivielso P. Approach to the management of pregnancy in patients with pseudoxanthoma elasticum: a review. J Obstet Gynaecol. 2016 Sep. PubMed PMID: 27623860.

Meunier N, Zaleski L. Pseudoxanthoma Elasticum: report of a case with a novel gene mutation. Dermatol Online J. 2016 Jun 16. PubMed PMID: 27617603.

Tromp TR, Kranenburg G, Ossewaarde-van Norel J, Spiering W. Pseudoxanthoma elasticum: A disorder with different manifestations. Ned Tijdschr Geneeskd. 2016. Dutch. PubMed PMID: 27507411.

Stella J, Buers I, van de Wetering K, Höhne W, Rutsch F, Nitschke Y. Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1. Hum Mutat. 2016 Nov. PubMed PMID: 27467858.

Li Q, Kingman J, Sundberg JP, Levine MA, Uitto J. Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-). Oncotarget. 2016 Jul 20. PubMed PMID: 27447569.

Gliem M, Müller PL, Birtel J, Hendig D, Holz FG, Charbel Issa P. Frequency, Phenotypic Characteristics and Progression of Atrophy Associated with a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum. Invest Ophthalmol Vis Sci. 2016. PubMed PMID: 27367499.

Muñoz Gómez MD, Novella Navarro M, Ramírez Gómez M, Navas-Parejo A. A case report of pseudoxanthoma elasticum and systemic lupus erythematosus: An uncommon association? Reumatol Clin. 2016 Jun 27. English, Spanish. PubMed PMID: 27365276.

Seeger H, Mohebbi N. Pseudoxanthoma elasticum and nephrocalcinosis. Kidney Int. 2016 Jun. PubMed PMID: 27181788.

Hocaoglu M, Karacorlu M, Sayman Muslubas I, Arf S, Ozdemir H, Uysal O. Visual impairment in pseudoxanthoma elasticum: a survey of 53 patients from Turkey. Eur J Ophthalmol. 2016 Aug 4. PubMed PMID: 27150937.

Gologorsky D, Gregori NZ, Goldhardt R. Image Gallery: Dermatologic and retinal manifestations of pseudoxanthoma elasticum. Br J Dermatol. 2016 Apr. PubMed PMID: 27115594.

Venkatachalam K, Chennamsetty K. Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association. Indian Dermatol Online J. 2016 Mar-Apr. PubMed PMID: 27057491.

Gusdorf L, Mitcov M, Maradeix S, Cunat S, Martin L, Cribier B. [Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features]. Ann Dermatol Venereol. 2016 Apr. French. PubMed PMID: 26944767.

Miglionico R, Gerbino A, Ostuni A, Armentano MF, Monné M, Carmosino M, Bisaccia F. New insights into the roles of the N-terminal region of the ABCC6 transporter. J Bioenerg Biomembr. 2016 Jun. PubMed PMID: 26942607.

Rashdan NA, Rutsch F, Kempf H, Váradi A, Lefthériotis G, MacRae VE. New perspectives on rare connective tissue calcifying diseases. Curr Opin Pharmacol.  2016 Jun. Review. PubMed PMID: 26930168.

Li Q, Arányi T, Váradi A, Terry SF, Uitto J. Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders. J Invest Dermatol. 2016 Mar. Review. PubMed PMID: 26902123.

Ebran JM, Mimoun G, Cohen SY, Grenet T, Donati A, Jean-Pastor MJ, Ponthieux A, Bouchet C. Treatment with ranibizumab for choroidal neovascularization secondary to a pseudoxanthoma elasticum: Results of the French observational study PiXEL. J Fr Ophtalmol. 2016 Apr. French. PubMed PMID: 26850508.

Oudkerk SF, de Jong PA, Blomberg BA, Scholtens AM, Mali WP, Spiering W. Whole-Body Visualization of Ectopic Bone Formation of Arteries and Skin in Pseudoxanthoma Elasticum. JACC Cardiovasc Imaging. 2016 Jun. PubMed PMID: 26298070.

Gambichler T, Reininghhaus L, Schaller J. Early-onset pseudoxanthoma elasticum-like papillary dermal elastolysis. J Eur Acad Dermatol Venereol. 2016 Mar. PubMed PMID: 25370919.