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10.1016/j.ymgmr.2016.10.006 http://scihub22266oqcxt.onion/10.1016/j.ymgmr.2016.10.006 C5109284!5109284!27872819     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       Mol+Genet+Metab+Rep 2016 ; 9 (ä): 75-8 Nephropedia Template TP {{tp|p=27872819|t=2016. Diagnosis of a mild peroxisomal phenotype with next-generation sequencing |pdf=|usr=}}{{27872819}} gab.com Text Diagnosis of a mild peroxisomal phenotype with next-generation sequencing JO: Mol Genet Metab Rep http://www.kidney.de/pget.php?&tw=1&pmid=27872819 #FOAvip Peroxisomal biogenesis disorders (PBD) are caused by mutations in PEX genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function. Twit Text FOAVip Diagnosis of a mild peroxisomal phenotype with next-generation sequencing ????Mol Genet Metab Rep http://www.kidney.de/pget.php?&tw=1&pmid=27872819 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27872819 #FOAvip English Wikipedia <ref>{{Cite pmid|27872819}}</ref> Diagnosis of a mild peroxisomal phenotype with next-generation sequencing #MMPMID27872819 Ventura MJ; Wheaton D; Xu M; Birch D; Bowne SJ; Sullivan LS; Daiger SP; Whitney AE; Jones RO; Moser AB; Chen R; Wangler MF Mol Genet Metab Rep 2016[Dec]; 9 (ä): 75-8 PMID27872819show ga Peroxisomal biogenesis disorders (PBD) are caused by mutations in PEX genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function. äDiagnosis of a mild peroxisomal phenotype with next-generation sequenc(epmc).pdf DeepDyve Pubget Overpricing