Pseudoxanthoma elasticum (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Pseudoxanthoma elasticum" in English language version.

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60nih.gov

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39doi.org

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11semanticscholar.org

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4worldcat.org

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2uspto.gov

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1jst.go.jp

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1harvard.edu

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1npr.org

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Hosen, Mohammad J.; Lamoen, Anouck; De Paepe, Anne; Vanakker, Olivier M. (2012). "Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues". Scientifica. 2012: 1–15. doi:10.6064/2012/598262. ISSN 2090-908X. PMC 3820553. PMID 24278718.
-Creative Commons Attribution 3.0 Unported license

doi.org

Li Q, van de Wetering K, Uitto J (February 2019). "Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development". review. The American Journal of Pathology. 189 (2): 216–225. doi:10.1016/j.ajpath.2018.09.014. PMC 6412714. PMID 30414410.
Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A (December 2005). "Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations". review. Journal of Medical Genetics. 42 (12): 881–92. doi:10.1136/jmg.2004.030171. PMC 1735972. PMID 15894595.
Finger RP, Charbel Issa P, Ladewig MS, Götting C, Szliska C, Scholl HP, Holz FG (2009). "Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches". review. Survey of Ophthalmology. 54 (2): 272–85. doi:10.1016/j.survophthal.2008.12.006. PMID 19298904.
Marconi B, Bobyr I, Campanati A, Molinelli E, Consales V, Brisigotti V, et al. (August 2015). "Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment". review. Intractable & Rare Diseases Research. 4 (3): 113–22. doi:10.5582/irdr.2015.01014. PMC 4561240. PMID 26361562.
Germain DP (May 2017). "Pseudoxanthoma elasticum". review. Orphanet Journal of Rare Diseases. 12 (1): 85. doi:10.1186/s13023-017-0639-8. PMC 5424392. PMID 28486967.
Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L (September 2009). "Manifestations of pseudoxanthoma elasticum in childhood". The British Journal of Dermatology. 161 (3): 635–9. doi:10.1111/j.1365-2133.2009.09298.x. PMID 19519828. S2CID 24795259.
Neldner KH, Struk B (2003). "Pseudoxanthoma Elasticum". Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. John Wiley & Sons. pp. 561–583. doi:10.1002/0471221929.ch11. ISBN 9780471221920. S2CID 32736212.
Lebwohl M, Lebwohl E, Bercovitch L (April 2003). "Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum". primary. Journal of the American Academy of Dermatology. 48 (4): 620–2. doi:10.1067/mjd.2003.195. PMID 12664032. S2CID 4831796.
Marconi, Barbara; Bobyr, Ivan; Campanati, Anna; Molinelli, Elisa; Consales, Veronica; Brisigotti, Valerio; Scarpelli, Marina; Racchini, Stefano; Offidani, Annamaria (2015). "Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment". Intractable & Rare Diseases Research. 4 (3): 113–122. doi:10.5582/irdr.2015.01014. ISSN 2186-361X. PMC 4561240. PMID 26361562.
Gliem M, Müller PL, Birtel J, Hendig D, Holz FG, Charbel Issa P (June 2016). "Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum". primary. Investigative Ophthalmology & Visual Science. 57 (7): 3323–30. doi:10.1167/iovs.16-19388. PMID 27367499.
Risseeuw S, Ossewaarde-van Norel J, Klaver CC, Colijn JM, Imhof SM, van Leeuwen R (August 2019). "Visual Acuity in Pseudoxanthoma Elasticum". primary. Retina. 39 (8): 1580–1587. doi:10.1097/IAE.0000000000002173. PMID 29652691. S2CID 4893600.
Germain, Dominique P. (2017-05-10). "Pseudoxanthoma elasticum". Orphanet Journal of Rare Diseases. 12 (1): 85. doi:10.1186/s13023-017-0639-8. ISSN 1750-1172. PMC 5424392. PMID 28486967.
Lefthériotis G, Abraham P, Le Corre Y, Le Saux O, Henrion D, Ducluzeau PH, et al. (November 2011). "Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum". primary. Journal of Vascular Surgery. 54 (5): 1390–4. doi:10.1016/j.jvs.2011.04.041. PMC 5529101. PMID 21723076.
Kranenburg G, de Jong PA, Mali WP, Attrach M, Visseren FL, Spiering W (January 2017). "Prevalence and severity of arterial calcifications in pseudoxanthoma elasticum (PXE) compared to hospital controls. Novel insights into the vascular phenotype of PXE". primary. Atherosclerosis. 256: 7–14. doi:10.1016/j.atherosclerosis.2016.11.012. PMID 27940376.
Kauw F, Kranenburg G, Kappelle LJ, Hendrikse J, Koek HL, Visseren FL, et al. (February 2017). "Cerebral disease in a nationwide Dutch pseudoxanthoma elasticum cohort with a systematic review of the literature". review. Journal of the Neurological Sciences. 373: 167–172. doi:10.1016/j.jns.2016.12.053. PMID 28131180. S2CID 206292331.
Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J (May 2000). "Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter". primary. Proceedings of the National Academy of Sciences of the United States of America. 97 (11): 6001–6. Bibcode:2000PNAS...97.6001R. doi:10.1073/pnas.100041297. PMC 18548. PMID 10811882.
Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, et al. (June 2000). "Mutations in ABCC6 cause pseudoxanthoma elasticum". primary. Nature Genetics. 25 (2): 228–31. doi:10.1038/76109. PMID 10835643. S2CID 510024.
Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, et al. (June 2000). "Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum". primary. Nature Genetics. 25 (2): 223–7. doi:10.1038/76102. PMID 10835642. S2CID 8883528.
Struk B, Cai L, Zäch S, Ji W, Chung J, Lumsden A, et al. (2000). "Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum". primary. Journal of Molecular Medicine. 78 (5): 282–6. doi:10.1007/s001090000114. PMID 10954200. S2CID 8062022.
Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Váradi A, et al. (September 2014). "ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report". primary. Arteriosclerosis, Thrombosis, and Vascular Biology. 34 (9): 1985–9. doi:10.1161/ATVBAHA.114.304017. PMC 6743317. PMID 24969777.
Schulz V, Hendig D, Szliska C, Götting C, Kleesiek K (June 2005). "Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum". primary. Human Biology. 77 (3): 367–84. doi:10.1353/hub.2005.0054. PMID 16392638. S2CID 44925940.
Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, et al. (October 2007). "Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum". primary. Journal of Medical Genetics. 44 (10): 621–8. doi:10.1136/jmg.2007.051094. PMC 2597973. PMID 17617515.
Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JM, ten Brink JB, et al. (August 2002). "Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease". primary. Circulation. 106 (7): 773–5. doi:10.1161/01.CIR.0000028420.27813.C0. PMID 12176944. S2CID 2107131.
Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, et al. (March 2007). "Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity". primary. The Journal of Investigative Dermatology. 127 (3): 581–7. doi:10.1038/sj.jid.5700610. PMID 17110937.
Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, et al. (March 2014). "Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum". primary. The Journal of Investigative Dermatology. 134 (3): 658–665. doi:10.1038/jid.2013.370. PMC 3945730. PMID 24008425.
Jin L, Jiang Q, Wu Z, Shao C, Zhou Y, Yang L, et al. (May 2015). "Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations". primary. The Journal of Investigative Dermatology. 135 (5): 1294–1302. doi:10.1038/jid.2015.10. PMC 4402129. PMID 25615550.
Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Ronchetti IP (2003). "Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum". primary. Ultrastructural Pathology. 27 (6): 375–84. doi:10.1080/716100800. PMID 14660276.
Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J (January 2009). "Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms". review. Experimental Dermatology. 18 (1): 1–11. doi:10.1111/j.1600-0625.2008.00795.x. PMC 3349969. PMID 19054062.
Hosen, Mohammad J.; Lamoen, Anouck; De Paepe, Anne; Vanakker, Olivier M. (2012). "Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues". Scientifica. 2012: 1–15. doi:10.6064/2012/598262. ISSN 2090-908X. PMC 3820553. PMID 24278718.
-Creative Commons Attribution 3.0 Unported license
Uitto J, Bercovitch L, Terry SF, Terry PF (July 2011). "Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting". review. American Journal of Medical Genetics. Part A. 155A (7): 1517–26. doi:10.1002/ajmg.a.34067. PMC 3121926. PMID 21671388.
Uitto J, Jiang Q, Váradi A, Bercovitch LG, Terry SF (June 2014). "Visual Acuity in Pseudoxanthoma Elasticum". review. Expert Opinion on Orphan Drugs. 2 (6): 567–577. doi:10.1517/21678707.2014.908702. PMC 4219573. PMID 25383264.
Jiang Q, Uitto J (September 2012). "Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) )". primary. Experimental Dermatology. 21 (9): 694–9. doi:10.1111/j.1600-0625.2012.01553.x. PMC 3422765. PMID 22897576.
Rose S, On SJ, Fuchs W, Chen C, Phelps R, Kornreich D, et al. (July 2019). "Magnesium supplementation in the treatment of pseudoxanthoma elasticum: A randomized trial". primary. Journal of the American Academy of Dermatology. 81 (1): 263–265. doi:10.1016/j.jaad.2019.02.055. PMID 30826287.
Kranenburg G, de Jong PA, Bartstra JW, Lagerweij SJ, Lam MG, Ossewaarde-van Norel J, et al. (March 2018). "Etidronate for Prevention of Ectopic Mineralization in Patients With Pseudoxanthoma Elasticum". primary. Journal of the American College of Cardiology. 71 (10): 1117–1126. doi:10.1016/j.jacc.2017.12.062. PMID 29519353.
Dedinszki D, Szeri F, Kozák E, Pomozi V, Tőkési N, Mezei TR, et al. (November 2017). "Oral administration of pyrophosphate inhibits connective tissue calcification". primary. EMBO Molecular Medicine. 9 (11): 1463–1470. doi:10.15252/emmm.201707532. PMC 5666306. PMID 28701330.
Li Q, Huang J, Pinkerton AB, Millan JL, van Zelst BD, Levine MA, et al. (February 2019). "-/- Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI". primary. The Journal of Investigative Dermatology. 139 (2): 360–368. doi:10.1016/j.jid.2018.07.030. PMC 6342656. PMID 30130617.
Le Saux O, Beck K, Sachsinger C, Treiber C, Göring HH, Curry K, et al. (October 2002). "Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa". primary. Human Genetics. 111 (4–5): 331–8. doi:10.1007/s00439-002-0808-1. PMID 12384774. S2CID 11117332.
Terry SF (2003). "Learning genetics". Health Affairs. 22 (5): 166–71. doi:10.1377/hlthaff.22.5.166. PMID 14515892.
Terry SF (March 2016). "Life as a numerator: Putting the person in personal genomics". Applied & Translational Genomics. 8: 40–1. doi:10.1016/j.atg.2016.01.007. PMC 4796705. PMID 27047760.

harvard.edu

ui.adsabs.harvard.edu

Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J (May 2000). "Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter". primary. Proceedings of the National Academy of Sciences of the United States of America. 97 (11): 6001–6. Bibcode:2000PNAS...97.6001R. doi:10.1073/pnas.100041297. PMC 18548. PMID 10811882.

jst.go.jp

jstage.jst.go.jp

Marconi, Barbara; Bobyr, Ivan; Campanati, Anna; Molinelli, Elisa; Consales, Veronica; Brisigotti, Valerio; Scarpelli, Marina; Racchini, Stefano; Offidani, Annamaria (2015). "Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment". Intractable & Rare Diseases Research. 4 (3): 113–122. doi:10.5582/irdr.2015.01014. ISSN 2186-361X. PMC 4561240. PMID 26361562.

nih.gov

pubmed.ncbi.nlm.nih.gov

Li Q, van de Wetering K, Uitto J (February 2019). "Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development". review. The American Journal of Pathology. 189 (2): 216–225. doi:10.1016/j.ajpath.2018.09.014. PMC 6412714. PMID 30414410.
Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A (December 2005). "Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations". review. Journal of Medical Genetics. 42 (12): 881–92. doi:10.1136/jmg.2004.030171. PMC 1735972. PMID 15894595.
Finger RP, Charbel Issa P, Ladewig MS, Götting C, Szliska C, Scholl HP, Holz FG (2009). "Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches". review. Survey of Ophthalmology. 54 (2): 272–85. doi:10.1016/j.survophthal.2008.12.006. PMID 19298904.
Marconi B, Bobyr I, Campanati A, Molinelli E, Consales V, Brisigotti V, et al. (August 2015). "Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment". review. Intractable & Rare Diseases Research. 4 (3): 113–22. doi:10.5582/irdr.2015.01014. PMC 4561240. PMID 26361562.
Germain DP (May 2017). "Pseudoxanthoma elasticum". review. Orphanet Journal of Rare Diseases. 12 (1): 85. doi:10.1186/s13023-017-0639-8. PMC 5424392. PMID 28486967.
Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L (September 2009). "Manifestations of pseudoxanthoma elasticum in childhood". The British Journal of Dermatology. 161 (3): 635–9. doi:10.1111/j.1365-2133.2009.09298.x. PMID 19519828. S2CID 24795259.
Lebwohl M, Lebwohl E, Bercovitch L (April 2003). "Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum". primary. Journal of the American Academy of Dermatology. 48 (4): 620–2. doi:10.1067/mjd.2003.195. PMID 12664032. S2CID 4831796.
Marconi, Barbara; Bobyr, Ivan; Campanati, Anna; Molinelli, Elisa; Consales, Veronica; Brisigotti, Valerio; Scarpelli, Marina; Racchini, Stefano; Offidani, Annamaria (2015). "Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment". Intractable & Rare Diseases Research. 4 (3): 113–122. doi:10.5582/irdr.2015.01014. ISSN 2186-361X. PMC 4561240. PMID 26361562.
Gliem M, Müller PL, Birtel J, Hendig D, Holz FG, Charbel Issa P (June 2016). "Frequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum". primary. Investigative Ophthalmology & Visual Science. 57 (7): 3323–30. doi:10.1167/iovs.16-19388. PMID 27367499.
Risseeuw S, Ossewaarde-van Norel J, Klaver CC, Colijn JM, Imhof SM, van Leeuwen R (August 2019). "Visual Acuity in Pseudoxanthoma Elasticum". primary. Retina. 39 (8): 1580–1587. doi:10.1097/IAE.0000000000002173. PMID 29652691. S2CID 4893600.
Ahmed, Harris; Khazaeni, Leila (2024), "Optic Disc Drusen", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 35593854, retrieved 2024-03-07
Germain, Dominique P. (2017-05-10). "Pseudoxanthoma elasticum". Orphanet Journal of Rare Diseases. 12 (1): 85. doi:10.1186/s13023-017-0639-8. ISSN 1750-1172. PMC 5424392. PMID 28486967.
Lefthériotis G, Abraham P, Le Corre Y, Le Saux O, Henrion D, Ducluzeau PH, et al. (November 2011). "Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum". primary. Journal of Vascular Surgery. 54 (5): 1390–4. doi:10.1016/j.jvs.2011.04.041. PMC 5529101. PMID 21723076.
Kranenburg G, de Jong PA, Mali WP, Attrach M, Visseren FL, Spiering W (January 2017). "Prevalence and severity of arterial calcifications in pseudoxanthoma elasticum (PXE) compared to hospital controls. Novel insights into the vascular phenotype of PXE". primary. Atherosclerosis. 256: 7–14. doi:10.1016/j.atherosclerosis.2016.11.012. PMID 27940376.
Kauw F, Kranenburg G, Kappelle LJ, Hendrikse J, Koek HL, Visseren FL, et al. (February 2017). "Cerebral disease in a nationwide Dutch pseudoxanthoma elasticum cohort with a systematic review of the literature". review. Journal of the Neurological Sciences. 373: 167–172. doi:10.1016/j.jns.2016.12.053. PMID 28131180. S2CID 206292331.
Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J (May 2000). "Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter". primary. Proceedings of the National Academy of Sciences of the United States of America. 97 (11): 6001–6. Bibcode:2000PNAS...97.6001R. doi:10.1073/pnas.100041297. PMC 18548. PMID 10811882.
Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, et al. (June 2000). "Mutations in ABCC6 cause pseudoxanthoma elasticum". primary. Nature Genetics. 25 (2): 228–31. doi:10.1038/76109. PMID 10835643. S2CID 510024.
Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, et al. (June 2000). "Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum". primary. Nature Genetics. 25 (2): 223–7. doi:10.1038/76102. PMID 10835642. S2CID 8883528.
Struk B, Cai L, Zäch S, Ji W, Chung J, Lumsden A, et al. (2000). "Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum". primary. Journal of Molecular Medicine. 78 (5): 282–6. doi:10.1007/s001090000114. PMID 10954200. S2CID 8062022.
Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Váradi A, et al. (September 2014). "ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report". primary. Arteriosclerosis, Thrombosis, and Vascular Biology. 34 (9): 1985–9. doi:10.1161/ATVBAHA.114.304017. PMC 6743317. PMID 24969777.
Schulz V, Hendig D, Szliska C, Götting C, Kleesiek K (June 2005). "Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum". primary. Human Biology. 77 (3): 367–84. doi:10.1353/hub.2005.0054. PMID 16392638. S2CID 44925940.
Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, et al. (October 2007). "Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum". primary. Journal of Medical Genetics. 44 (10): 621–8. doi:10.1136/jmg.2007.051094. PMC 2597973. PMID 17617515.
Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JM, ten Brink JB, et al. (August 2002). "Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease". primary. Circulation. 106 (7): 773–5. doi:10.1161/01.CIR.0000028420.27813.C0. PMID 12176944. S2CID 2107131.
Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, et al. (March 2007). "Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity". primary. The Journal of Investigative Dermatology. 127 (3): 581–7. doi:10.1038/sj.jid.5700610. PMID 17110937.
Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, et al. (March 2014). "Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum". primary. The Journal of Investigative Dermatology. 134 (3): 658–665. doi:10.1038/jid.2013.370. PMC 3945730. PMID 24008425.
Jin L, Jiang Q, Wu Z, Shao C, Zhou Y, Yang L, et al. (May 2015). "Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations". primary. The Journal of Investigative Dermatology. 135 (5): 1294–1302. doi:10.1038/jid.2015.10. PMC 4402129. PMID 25615550.
Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Ronchetti IP (2003). "Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum". primary. Ultrastructural Pathology. 27 (6): 375–84. doi:10.1080/716100800. PMID 14660276.
Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J (January 2009). "Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms". review. Experimental Dermatology. 18 (1): 1–11. doi:10.1111/j.1600-0625.2008.00795.x. PMC 3349969. PMID 19054062.
Hosen, Mohammad J.; Lamoen, Anouck; De Paepe, Anne; Vanakker, Olivier M. (2012). "Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues". Scientifica. 2012: 1–15. doi:10.6064/2012/598262. ISSN 2090-908X. PMC 3820553. PMID 24278718.
-Creative Commons Attribution 3.0 Unported license
Uitto J, Bercovitch L, Terry SF, Terry PF (July 2011). "Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting". review. American Journal of Medical Genetics. Part A. 155A (7): 1517–26. doi:10.1002/ajmg.a.34067. PMC 3121926. PMID 21671388.
Uitto J, Jiang Q, Váradi A, Bercovitch LG, Terry SF (June 2014). "Visual Acuity in Pseudoxanthoma Elasticum". review. Expert Opinion on Orphan Drugs. 2 (6): 567–577. doi:10.1517/21678707.2014.908702. PMC 4219573. PMID 25383264.
Jiang Q, Uitto J (September 2012). "Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) )". primary. Experimental Dermatology. 21 (9): 694–9. doi:10.1111/j.1600-0625.2012.01553.x. PMC 3422765. PMID 22897576.
Rose S, On SJ, Fuchs W, Chen C, Phelps R, Kornreich D, et al. (July 2019). "Magnesium supplementation in the treatment of pseudoxanthoma elasticum: A randomized trial". primary. Journal of the American Academy of Dermatology. 81 (1): 263–265. doi:10.1016/j.jaad.2019.02.055. PMID 30826287.
Kranenburg G, de Jong PA, Bartstra JW, Lagerweij SJ, Lam MG, Ossewaarde-van Norel J, et al. (March 2018). "Etidronate for Prevention of Ectopic Mineralization in Patients With Pseudoxanthoma Elasticum". primary. Journal of the American College of Cardiology. 71 (10): 1117–1126. doi:10.1016/j.jacc.2017.12.062. PMID 29519353.
Dedinszki D, Szeri F, Kozák E, Pomozi V, Tőkési N, Mezei TR, et al. (November 2017). "Oral administration of pyrophosphate inhibits connective tissue calcification". primary. EMBO Molecular Medicine. 9 (11): 1463–1470. doi:10.15252/emmm.201707532. PMC 5666306. PMID 28701330.
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Marconi, Barbara; Bobyr, Ivan; Campanati, Anna; Molinelli, Elisa; Consales, Veronica; Brisigotti, Valerio; Scarpelli, Marina; Racchini, Stefano; Offidani, Annamaria (2015). "Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment". Intractable & Rare Diseases Research. 4 (3): 113–122. doi:10.5582/irdr.2015.01014. ISSN 2186-361X. PMC 4561240. PMID 26361562.
Germain, Dominique P. (2017-05-10). "Pseudoxanthoma elasticum". Orphanet Journal of Rare Diseases. 12 (1): 85. doi:10.1186/s13023-017-0639-8. ISSN 1750-1172. PMC 5424392. PMID 28486967.
Hosen, Mohammad J.; Lamoen, Anouck; De Paepe, Anne; Vanakker, Olivier M. (2012). "Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues". Scientifica. 2012: 1–15. doi:10.6064/2012/598262. ISSN 2090-908X. PMC 3820553. PMID 24278718.
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