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10.3233/PGE-13056 http://scihub22266oqcxt.onion/10.3233/PGE-13056 C5020967!5020967!27625848     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Pediatr+Genet 2013 ; 2 (2): 109-12 Nephropedia Template TP {{tp|p=27625848|t=2013. An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation |pdf=|usr=}}{{27625848}} gab.com Text An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation JO: J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27625848 #FOAvip Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization of glucose and galactose. In this communication, we present the case of a 5-year-old girl who presented with deforming rickets and massive hepatomegaly. Liver biopsy confirmed the diagnosis of glycogen storage disorder. However, the mutation of the SLC2A2 (GLUT2) gene was not found. Mutation negative patients with characteristic Fanconi-Bickel syndrome phenotype suggest additional underlying mechanisms that need exploration. Twit Text FOAVip An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation ????J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27625848 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27625848 #FOAvip English Wikipedia <ref>{{Cite pmid|27625848}}</ref> An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation #MMPMID27625848 Dayal D; Dekate P; Sharda S; Das A; Attri S J Pediatr Genet 2013[Jun]; 2 (2): 109-12 PMID27625848show ga Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization of glucose and galactose. In this communication, we present the case of a 5-year-old girl who presented with deforming rickets and massive hepatomegaly. Liver biopsy confirmed the diagnosis of glycogen storage disorder. However, the mutation of the SLC2A2 (GLUT2) gene was not found. Mutation negative patients with characteristic Fanconi-Bickel syndrome phenotype suggest additional underlying mechanisms that need exploration. äAn Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutati(epmc).pdf DeepDyve Pubget Overpricing