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Autor:
B E, Smid, C E M, Hollak, B J H M, Poorthuis, M A, van den Bergh Weerman, S, Florquin, W E M, Kok, R H, Lekanne Deprez, J, Timmermans, G E, Linthorst
Publikováno v:
Clinical genetics. 88(2)
Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead to classical or non-classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non-classical FD and assess the diagnostic val
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd77aa5b2073380c1f64f047add89c92
https://pubmed.ncbi.nlm.nih.gov/25040344
https://pubmed.ncbi.nlm.nih.gov/25040344
