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10.1016/j.ymgmr.2015.01.005 http://scihub22266oqcxt.onion/10.1016/j.ymgmr.2015.01.005 C5471155!5471155!28649532     free     free     free Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 261.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Mol+Genet+Metab+Rep 2015 ; 2 (ä): 81-4 Nephropedia Template TP {{tp|p=28649532|t=2015. First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children |pdf=|usr=}}{{28649532}} gab.com Text First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children JO: Mol Genet Metab Rep http://www.kidney.de/pget.php?&tw=1&pmid=28649532 #FOAvip We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98_104 del7insTCC; p.Cys33PhefsX36) that is commonly seen in the western countries, the second is homozygous for a novel missense mutation (p.Ala439Asp), and the third is the first reported instance of a contiguous gene deletion causing the enzyme deficiency. In addition, this latter finding exemplifies the importance of considering a deletion within the BTD gene for reconciling enzymatic activity with genotype, which can occur in asymptomatic children who are identified by newborn screening. Twit Text FOAVip First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children ????Mol Genet Metab Rep http://www.kidney.de/pget.php?&tw=1&pmid=28649532 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28649532 #FOAvip English Wikipedia <ref>{{Cite pmid|28649532}}</ref> First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children #MMPMID28649532 Senanayake DN; Jasinge EA; Pindolia K; Wanigasinghe J; Monaghan K; Suchy SF; Wei S; Jaysena S; Wolf B Mol Genet Metab Rep 2015[Mar]; 2 (ä): 81-4 PMID28649532show ga We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98_104 del7insTCC; p.Cys33PhefsX36) that is commonly seen in the western countries, the second is homozygous for a novel missense mutation (p.Ala439Asp), and the third is the first reported instance of a contiguous gene deletion causing the enzyme deficiency. In addition, this latter finding exemplifies the importance of considering a deletion within the BTD gene for reconciling enzymatic activity with genotype, which can occur in asymptomatic children who are identified by newborn screening. äFirst contiguous gene deletion causing biotinidase deficiency: The enz(epmc).pdf DeepDyve Pubget Overpricing