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.
 

2011 • 2010 • 2009 • 2008 • 2007 • 2006 • 2005 • 2004 • 2003 • 2002 • 2001 • 2000 • 1999-1992

2012

Sasai H, Sakakura K, Wada H, Sugawara Y, Ako J, Momomura S. Stiff coronary stenosis in a young female with pseudoxanthoma elasticum. JACC Cardiovascular Interventions. 2012 Jan; 5(1): 112-3.

Li Q, Schumacher W, Siegel D, Jablonski D, Uitto J. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol. 2012 Jan 9. [Epub ahead of print]

Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier M, Chassaing N, Roche O, Feenstra I, Loechner K, D Charu, Garber S, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith W, Kahler S, Mignon McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6. The American Journal of Human Genetics. 13 January 2012; 90(1): 25-39.

Tan M, Vanakker O, Tran H, Robson A, Lai-Cheong J, Groves R, Holder G E Moore T. Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene. Eye. 20 January 2012. [Epub ahead of print]

Siskos D, Giannakakis S, Makris S, Pirgakis K, Psyllas A, Maltezos C. Case report of a patient with iliac occlusive disease due to pseudoxantoma elasticum and review of the bibliography. Annals of Vascular Surgery. 2012 Feb; 26(2): 278.e11-4.

Velázquez-Cayón RT, Torres-Lagares D, Yáñez-Vico RM, Cárabe-Fernández A, Benítez-Rodríguez J, Serrera-Figallo MA, Gutiérrez-Pérez JL. Dental impactions related to pseudoxanthoma elasticum. Journal of Oral and Maxillofacial Surgery. 2012 Mar; 70(3): e214-6.

Dannepond C, Martin L, Kerdraon R, Croué A, Lebidre E, Estève E. [Atypical eruptive collagenoma: Two cases]. Ann Dermatol Venereol. 2012 Mar; 139(3): 209-15. Epub 2012 Feb 5.

Kavukcuoglu NB, Li Q, Pleshko N, Uitto J. Connective tissue mineralization in Abcc6(-/-) mice, a model for Pseudoxanthoma elasticum. Matrix Biology. 2012 Mar 6. [Epub ahead of print]

Velázquez-Cayón RT, Torres-Lagares D, Yáñez-Vico RA, Cárabe-Fernández A, Benítez-Rodríguez J, Serrera-Figallo MA, Gutiérrez-Pérez JL. Dental Impactions Related to Pseudoxanthoma Elasticum. J Oral Maxillofac Surg. 2012 Mar; 70(3): e214-6.

Budania A, De D, Saikia UN, Kanwar AJ, Mahajan R, Yadav S. Periumbilical perforating pseudoxanthoma elasticum-an acquired perforating disorder. Int J Dermatol. 2012 Apr; 51(4): 439-41. doi: 10.1111/j.1365-4632.2011.05276

Quaglino D, Boraldi F, Annovi G, Ronchetti I. The Multifaceted Complexity of Genetic Diseases: A Lesson from Pseudoxanthoma Elasticum. Advances in the Study of Genetic Disorders, ISBN: 978-953-307-305-7. Article here.