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Burden associated with Fabry disease and its treatment in 12–15 year olds: results from a European survey

Abstract Background Fabry Disease (FD) is a rare X-linked metabolic lysosomal disorder. FD has a broad range of symptoms which vary markedly between patients. The heterogenous nature of the disease makes diagnosis difficult for health care professionals (HCPs), which in turn has a significant effect...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Lisa Bashorum, Gerard McCaughey, Owen Evans, Ashley C. Humphries, Richard Perry, Alasdair MacCulloch
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMC 2022-07-01
Σειρά:Orphanet Journal of Rare Diseases
Θέματα:
Διαθέσιμο Online:https://doi.org/10.1186/s13023-022-02417-3
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