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10.7555/JBR.31.20160063 http://scihub22266oqcxt.onion/10.7555/JBR.31.20160063 C5274508/?report=reader!5274508!28808181     free     free     free Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 269.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Biomed+Res 2017 ; 31 (1): 17-24 Nephropedia Template TP {{tp|p=28808181|t=2017. Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study |pdf=|usr=}}{{28808181}} gab.com Text Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study JO: J Biomed Res http://www.kidney.de/pget.php?&tw=1&pmid=28808181 #FOAvip We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease (ESRD) of an unknown origin. Venous blood samples were collected from ESRD patients for biochemical and molecular studies. Alpha-galactosidase A (?-GAL A) screening was performed from dried-blood spots using fluorometry. Molecular confirmation was performed using DNA sequencing of the GLA gene. A total of 142 male and female patients were included in this study. Ten patients (7.04%) exhibited a significant decrease in ?-GAL A activity. There were no definitive pathogenic mutations observed in the molecular study. However, four patients revealed a novel nucleotide variant at c.1 -10 C>T, which was identified as a benign variant following screening in the normal population. In conclusion, the ?-GAL A assay utilizing dried-blood spots revealed a significant false positive rate. There was no definitive Fabry disease confirmed in Thai patients diagnosed with ESRD of unknown etiology. Twit Text FOAVip Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study ????J Biomed Res http://www.kidney.de/pget.php?&tw=1&pmid=28808181 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28808181 #FOAvip English Wikipedia <ref>{{Cite pmid|28808181}}</ref> Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study #MMPMID28808181 Trachoo O; Jittorntam P; Pibalyart S; Kajanachumphol S; Suvachittanont N; Patputthipong S; Chuengsaman P; Nongnuch A J Biomed Res 2017[Jan]; 31 (1): 17-24 PMID28808181show ga We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease (ESRD) of an unknown origin. Venous blood samples were collected from ESRD patients for biochemical and molecular studies. Alpha-galactosidase A (?-GAL A) screening was performed from dried-blood spots using fluorometry. Molecular confirmation was performed using DNA sequencing of the GLA gene. A total of 142 male and female patients were included in this study. Ten patients (7.04%) exhibited a significant decrease in ?-GAL A activity. There were no definitive pathogenic mutations observed in the molecular study. However, four patients revealed a novel nucleotide variant at c.1 -10 C>T, which was identified as a benign variant following screening in the normal population. In conclusion, the ?-GAL A assay utilizing dried-blood spots revealed a significant false positive rate. There was no definitive Fabry disease confirmed in Thai patients diagnosed with ESRD of unknown etiology. äScreening of Fabry disease in patients with end-stage renal disease of(epmc).pdf DeepDyve Pubget Overpricing