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Experimental Dermatology|November 10, 2021
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticumEszter Kozák, Krisztina Fülöp, Natália Tőkési, et al.Clinical and Translational Science|December 23, 2017
Application of a Dynamic Map for Learning, Communicating, Navigating, and Improving Therapeutic DevelopmentJohn A Wagner, Andrew M Dahlem, Lynn D Hudson, et al.Annals of Family Medicine|July 22, 2015
Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics RoundtableSean P David, Samuel G Johnson, Adam C Berger, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2010
Committee report: Method for evaluating conditions nominated for population-based screening of newborns and childrenNed Calonge, Nancy S Green, Piero Rinaldo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2011
Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screeningBradford L Therrell, W Harry Hannon, Donald B Bailey, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 12, 2009
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6Astrid S Plomp, Arthur A B Bergen, Ralph J Florijn, et al.Journal of the American Academy of Dermatology|April 19, 2011
A randomized controlled trial of oral phosphate binders in the treatment of pseudoxanthoma elasticumJane Y Yoo, Robin R Blum, Giselle K Singer, et al.Plos Genetics|April 28, 2022
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcificationDouglas Ralph, Yvonne Nitschke, Michael A Levine, et al.Human Mutation|December 25, 2007
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchartOlivier M Vanakker, Bart P Leroy, Paul Coucke, et al.The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics|April 18, 2019
Importance of Participant-Centricity and Trust for a Sustainable Medical Information CommonsAmy L McGuire, Mary A Majumder, Angela G Villanueva, et al.Pageof 8