Anderson-Fabry Disease and Other Inherited Lipid Disorders of the Kidney
作者： Edward Stern , Mark Harber
DOI: 10.1007/978-1-4471-5547-8_44
关键词: Gastroenterology 、 Internal medicine 、 European union 、 Biopsy 、 Anderson-Fabry Disease 、 Enzyme replacement therapy 、 Medicine 、 Agalsidase alfa 、 Kidney 、 Pathognomonic 、 Fanconi syndrome
摘要: This is a group of rare disorders presenting with proteinuric renal impairment. They are often detected on biopsy, which shows pathognomonic lipid deposits in the kidney.
springer.com
sci-hub.st 参考文章(17)
Regina El Dib, Álvaro N Atallah, Gregory M Pastores, Enzyme replacement therapy for Fabry disease Cochrane Database of Systematic Reviews. ,(2007) , 10.1002/14651858.CD006663
Regina P El Dib, Paulo Nascimento, Gregory M Pastores, Enzyme replacement therapy for Anderson-Fabry disease Cochrane Database of Systematic Reviews. ,vol. 7, pp. 0- 0 ,(2016) , 10.1002/14651858.CD006663.PUB4
Tariq Shah, Jagbir Gill, Neetu Malhotra, Steven K Takemoto, Suphamai Bunnapradist, None, Kidney transplant outcomes in patients with Fabry disease. Transplantation. ,vol. 87, pp. 280- 285 ,(2009) , 10.1097/TP.0B013E318191A842
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
Dominique P. Germain, Stephen Waldek, Maryam Banikazemi, David A. Bushinsky, Joel Charrow, Robert J. Desnick, Philip Lee, Thomas Loew, Anouk C. Vedder, Rekha Abichandani, William R. Wilcox, Nathalie Guffon, Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry Disease Journal of The American Society of Nephrology. ,vol. 18, pp. 1547- 1557 ,(2007) , 10.1681/ASN.2006080816
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
G. E. Linthorst, M. G. Bouwman, F. A. Wijburg, J. M. F. G. Aerts, B. J. H. M. Poorthuis, C. E. M. Hollak, Screening for Fabry disease in high-risk populations: a systematic review Journal of Medical Genetics. ,vol. 47, pp. 217- 222 ,(2010) , 10.1136/JMG.2009.072116
Peter J Meikle, John J Hopwood, Alan E Clague, William F Carey, Prevalence of Lysosomal Storage Disorders JAMA. ,vol. 281, pp. 249- 254 ,(1999) , 10.1001/JAMA.281.3.249
Laura Calabresi, Livia Pisciotta, Anna Costantin, Ilaria Frigerio, Ivano Eberini, Paola Alessandrini, Marcello Arca, Gabriele Bittolo Bon, Giuliano Boscutti, Ghil Busnach, Giovanni Frascà, Loreto Gesualdo, Maddalena Gigante, Graziana Lupattelli, Anna Montali, Stefano Pizzolitto, Ivana Rabbone, Marina Rolleri, Giacomo Ruotolo, Tiziana Sampietro, Adalberto Sessa, Gaetano Vaudo, Alfredo Cantafora, Fabrizio Veglia, Sebastiano Calandra, Stefano Bertolini, Guido Franceschini, The Molecular Basis of Lecithin:Cholesterol Acyltransferase Deficiency Syndromes: A Comprehensive Study of Molecular and Biochemical Findings in 13 Unrelated Italian Families Arteriosclerosis, Thrombosis, and Vascular Biology. ,vol. 25, pp. 1972- 1978 ,(2005) , 10.1161/01.ATV.0000175751.30616.13
Michael West, Kathy Nicholls, Atul Mehta, Joe T.R. Clarke, Robert Steiner, Michael Beck, Bruce A. Barshop, William Rhead, Robert Mensah, Markus Ries, Raphael Schiffmann, Agalsidase Alfa and Kidney Dysfunction in Fabry Disease Journal of The American Society of Nephrology. ,vol. 20, pp. 1132- 1139 ,(2009) , 10.1681/ASN.2008080870