Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.
作者： Pasquale Esposito , Fulvio Fiorini , Cristiano Azzini , Alessandro De vito , Antonio Granata
关键词:
摘要: … Accordingly, the prevalence of FD could be underestimated in … the importance of investigations not only in CKD patients with … family screening study (48), of 1,214 relatives of 71 CKD …
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Carlo Garofalo, Silvio Borrelli, Mario Pacilio, Roberto Minutolo, Paolo Chiodini, Luca De Nicola, Giuseppe Conte, Hypertension and Prehypertension and Prediction of Development of Decreased Estimated GFR in the General Population: A Meta-analysis of Cohort Studies American Journal of Kidney Diseases. ,vol. 67, pp. 89- 97 ,(2016) , 10.1053/J.AJKD.2015.08.027
L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt, D.P. Germain, X-chromosome inactivation in female patients with Fabry disease. Clinical Genetics. ,vol. 89, pp. 44- 54 ,(2016) , 10.1111/CGE.12613
William G. Couser, Giuseppe Remuzzi, Shanthi Mendis, Marcello Tonelli, The contribution of chronic kidney disease to the global burden of major noncommunicable diseases Kidney International. ,vol. 80, pp. 1258- 1270 ,(2011) , 10.1038/KI.2011.368
Dawn A. Laney, Paul M. Fernhoff, Diagnosis of Fabry disease via analysis of family history. Journal of Genetic Counseling. ,vol. 17, pp. 79- 83 ,(2008) , 10.1007/S10897-007-9128-X
William R Wilcox, João Paulo Oliveira, Robert J Hopkin, Alberto Ortiz, Maryam Banikazemi, Ulla Feldt-Rasmussen, Katherine Sims, Stephen Waldek, Gregory M Pastores, Philip Lee, Christine M Eng, Laszlo Marodi, Kevin E Stanford, Frank Breunig, Christoph Wanner, David G Warnock, Roberta M Lemay, Dominique P Germain, None, Females with Fabry disease frequently have major organ involvement : Lessons from the Fabry Registry Molecular Genetics and Metabolism. ,vol. 93, pp. 112- 128 ,(2008) , 10.1016/J.YMGME.2007.09.013
Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, Robert J. Desnick, High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening* American Journal of Human Genetics. ,vol. 79, pp. 31- 40 ,(2006) , 10.1086/504601
Y Battaglia, L Russo, R Spadola, Domenico Russo, Local Coordinators, None, Awareness of kidney diseases in general population and in high school students. Italian report for World Kidney Days 2010-2011 Journal of Nephrology. ,vol. 25, pp. 843- 846 ,(2012) , 10.5301/JN.2012.9486
Adalberto Sessa, Mietta Meroni, Graziana Battini, Massimo Amato, Marco Righetti, Mauro Bertella, Pierluigi Brambilla, Barbara Bertagnolio, 'Atypical' clinical variants of Anderson-Fabry disease. Nephron. ,vol. 89, pp. 469- 470 ,(2001) , 10.1159/000046124
C. Auray-Blais, D. S. Millington, S. P. Young, J. T. R. Clarke, R. Schiffmann, Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. Journal of Inherited Metabolic Disease. ,vol. 32, pp. 303- 308 ,(2009) , 10.1007/S10545-009-1055-6
Rui Pinto, Carla Caseiro, Manuela Lemos, Lurdes Lopes, Augusta Fontes, Helena Ribeiro, Eugénia Pinto, Elisabete Silva, Sónia Rocha, Ana Marcão, Isaura Ribeiro, Lúcia Lacerda, Gil Ribeiro, Olga Amaral, M C Sá Miranda, Prevalence of lysosomal storage diseases in Portugal. European Journal of Human Genetics. ,vol. 12, pp. 87- 92 ,(2004) , 10.1038/SJ.EJHG.5201044