2019
DOI: 10.1016/j.gene.2018.11.054
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High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease

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Cited by 7 publications
(8 citation statements)
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“…Thus, the clinical severity of private missense variants detected in Fabry families with few, or only young patients, is difficult to predict and requires more extensive clinical information from unrelated patients with the same FD genotype [50]. Furthermore, the burden of common risk factors (e.g., hypertension, high levels of cholesterol, diabetes) and the presence of concomitant diseases can be responsible for adjunctive signs and symptoms during aging [4,54].…”
Section: Interpretation Of Genetic Variantsmentioning
confidence: 99%
“…Thus, the clinical severity of private missense variants detected in Fabry families with few, or only young patients, is difficult to predict and requires more extensive clinical information from unrelated patients with the same FD genotype [50]. Furthermore, the burden of common risk factors (e.g., hypertension, high levels of cholesterol, diabetes) and the presence of concomitant diseases can be responsible for adjunctive signs and symptoms during aging [4,54].…”
Section: Interpretation Of Genetic Variantsmentioning
confidence: 99%
“…Only two patients had tortuosity of the retinal veins. Koca et al (11) had found cornea verticillata in 65.3 % of the patients.…”
Section: Discussionmentioning
confidence: 90%
“…Adapted from Ortiz et al Mol Genet Metab. 2018 Apr; 123(4):416-427 rest of the world, recurrent pathogenic variants are rare [14,158].…”
Section: The Consensus Statement On Interpretation Of Pathogenic Vari...mentioning
confidence: 99%
“…The frequency of inborn metabolic diseases in Turkey is considerably high in general, probably related to the high rate of consanguineous marriages [ 11 ]. In accordance with worldwide statistics on an increased awareness of FD among physicians since the disease has become treatable with enzyme replacement therapy (ERT) [ 12 , 13 ], the heightened awareness about FD is also evident in Turkey, especially after the availability of ERT [ 14 ]. Accordingly, in first screening study done in Turkey carried out in a group of male hemodialysis patients using plasma α-Gal A test, authors reported the prevalence of FD to be 0.24% [ 15 ].…”
Section: Introductionmentioning
confidence: 99%