The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
作者： Elfrida R. Benjamin , Maria Cecilia Della Valle , Xiaoyang Wu , Evan Katz , Farhana Pruthi
DOI: 10.1038/GIM.2016.122
关键词:
摘要: Purpose: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific …
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sci-hub.se 参考文章(33)
Andreas Gal, Imke Rohard, Ellen Schäfer, The genetic basis of Fabry disease Oxford PharmaGenesis. ,(2006)
Markus Ries, Andreas Gal, Genotype–phenotype correlation in Fabry disease Oxford PharmaGenesis. ,(2006)
D. G Altman, J M. Bland, Diagnostic tests 2: Predictive values. BMJ. ,vol. 309, pp. 102- 102 ,(1994) , 10.1136/BMJ.309.6947.102
Ali K. Topaloglu, Grace A. Ashley, Bingzheng Tong, Junaid Shabbeer, Kenneth H. Astrin, Christine M. Eng, Robert J. Desnick, Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Molecular Medicine. ,vol. 5, pp. 806- 811 ,(1999) , 10.1007/BF03401993
Jian-Qiang Fan, Satoshi Ishii, Naoki Asano, Yoshiyuki Suzuki, Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nature Medicine. ,vol. 5, pp. 112- 115 ,(1999) , 10.1038/4801
P. Lemansky, D.F. Bishop, R.J. Desnick, A. Hasilik, K. von Figura, Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. Journal of Biological Chemistry. ,vol. 262, pp. 2062- 2065 ,(1987) , 10.1016/S0021-9258(18)61618-7
Dominique P. Germain, Junaid Shabbeer, Sylvie Cotigny, Robert J. Desnick, Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Molecular Medicine. ,vol. 8, pp. 306- 312 ,(2002) , 10.1007/BF03402156
Franklin K. Johnson, Paul N. Mudd, Alexander Bragat, Mathews Adera, Pol Boudes, Pharmacokinetics and Safety of Migalastat HCl and Effects on Agalsidase Activity in Healthy Volunteers Clinical pharmacology in drug development. ,vol. 2, pp. 120- 132 ,(2013) , 10.1002/CPDD.1
D G Altman, J M Bland, Diagnostic tests. 1: Sensitivity and specificity. BMJ. ,vol. 308, pp. 1552- 1552 ,(1994) , 10.1136/BMJ.308.6943.1552
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