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1دورية أكاديمية
المؤلفون: Oliveira, J, Nowak, A, Barbey, F, Torres, M, Nunes, J, Teixeira-e-Costa, F, Carvalho, F, Sampaio, S, Tavares, I, Pereira, O, Soares, A, Carmona, C, Cardoso, MT, Jurca-Simina, I, Spada, M, Ferreira, S, Germain, D
المساهمون: Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
مصطلحات موضوعية: HCC NEF, Adult, Aged, Male, Alleles, Middle Aged, Humans, Cardiovascular Diseases / complications, Cardiovascular Diseases / genetics, Cardiovascular Diseases / metabolism, Cerebrovascular Disorders / complications, Cerebrovascular Disorders / genetics, Cerebrovascular Disorders / metabolism, Fabry Disease / complications, Fabry Disease / diagnosis, Fabry Disease / diagnostic imaging, Fabry Disease / genetics, Genotype, Genetic Association Studies, Haplotypes, Italy / epidemiology, Microsatellite Repeats / genetics, Mutation, Myocytes, Cardiac / pathology, Myocytes, Cardiac / ultrastructure, Phenotype, Portugal / epidemiology, Renal Insufficiency, Chronic / complications, Renal Insufficiency, Chronic / genetics, Renal Insufficiency, Chronic / metabolism, Risk Factors, alpha-Galactosidase / genetics, alpha-Galactosidase / metabolism
وصف الملف: application/pdf
العلاقة: Eur J Med Genet . 2020 Feb;63(2):103703.
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2دورية أكاديمية
المؤلفون: Germain, DP, Elliott, PM, Falissard, B, Fomin, VV, Hilz, MJ, Jovanovic, A, Kantola, I, Linhart, A, Mignani, R, Namdar, M, Nowak, A, Oliveira, JP, Pieroni, M, Viana-Baptista, M, Wanner, C, Spada, M
مصطلحات موضوعية: adult male patients, agalsidase alfa, agalsidase beta, enzyme replacement therapy, Fabry disease, systematic literature review
وصف الملف: application/pdf
العلاقة: 2214-4269