http://purl.uniprot.org/citations/27142856 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/27142856 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/27142856 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundFabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma.MethodsTo determine the clinical impact of the alpha-Galactosidase A (GLA) p.A143T/ c.427G > A variation, we retrospectively analyzed 25 p.A143T patients in comparison to 58 FD patients with other missense mutations.Resultsp.A143T patients suffering from stroke/ transient ischemic attacks had slightly decreased residual GLA activities, and/or increased lyso-Gb3 levels, suspecting FD. However, most male p.A143T patients presented with significant residual GLA activity (~50 % of reference), which was associated with normal lyso-Gb3 levels. Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations. Two tested female p.A143T patients with stroke/TIA did not show skewed X chromosome inactivation. No accumulation of neurologic events in family members of p.A143T patients with stroke/transient ischemic attacks was observed.ConclusionsWe conclude that GLA p.A143T seems to be most likely a neutral variant or a possible modifier instead of a disease-causing mutation. Therefore, we suggest that p.A143T patients with stroke/transient ischemic attacks of unknown etiology should be further evaluated, since the diagnosis of FD is not probable and subsequent ERT or chaperone treatment should not be an unreflected option."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.org/dc/terms/identifier | "doi:10.1186/s13023-016-0441-z"xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.org/dc/terms/identifier | "doi:10.1186/s13023-016-0441-z"xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Schmitz B."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Schmitz B."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Wanner C."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Wanner C."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Brand E."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Brand E."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Lenders M."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Lenders M."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Blaschke D."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Blaschke D."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Brand S.M."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Brand S.M."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Canaan-Kuehl S."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Canaan-Kuehl S."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Duning T."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Duning T."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Kraemer J."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Kraemer J."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Kurschat C."xsd:string |
http://purl.uniprot.org/citations/27142856 | http://purl.uniprot.org/core/author | "Kurschat C."xsd:string |