Listar por tema "Fabry disease"
Mostrando ítems 1-6 de 6
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Action and reaction of pre-primary and primary school-age children to restrictions during covid-19 pandemic in greece
(2021)The fast-spreading coronavirus disease 2019 (COVID-19) pandemic forced countries to apply restrictive measures to counteract it. School closure was quickly adopted by health authorities. We aimed to investigate the compliance ... -
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases
(2020)Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient.MethodsHere, we ... -
Diagnostic Challenges and Uncertainties of Embolic Strokes of Undetermined Source in Young Adults
(2022)[No abstract available] -
Fabry disease due to D313Y and novel GLA mutations
(2017)Objectives Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in ... -
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
(2022)The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort ... -
Unusual case of subarachnoid haemorrhage in patient with Fabry's disease: Case report and literature review
(2012)Fabry's disease is a rare, X linked recessive disease affecting 1 in 40 000 persons. The symptoms result from a lack of or a non-functioning enzyme α galactosidase, which leads to globotriaosylceramide accumulation in the ...