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10.11604/pamj.2015.22.276.7929 http://scihub22266oqcxt.onion/10.11604/pamj.2015.22.276.7929 C4765342!4765342!26958139     free     free     free Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Pan+Afr+Med+J 2015 ; 22 (ä): ä Nephropedia Template TP {{tp|p=26958139|t=2015. Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report |pdf=|usr=}}{{26958139}} gab.com Text Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report JO: Pan Afr Med J http://www.kidney.de/pget.php?&tw=1&pmid=26958139 #FOAvip Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome. Twit Text FOAVip Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report ????Pan Afr Med J http://www.kidney.de/pget.php?&tw=1&pmid=26958139 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26958139 #FOAvip English Wikipedia <ref>{{Cite pmid|26958139}}</ref> Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report #MMPMID26958139 Abidi K; Jellouli M; Rabeh RB; Hammi Y; Gargah T Pan Afr Med J 2015[]; 22 (ä): ä PMID26958139show ga Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome. äWilliams-Beuren syndrome associated with single kidney and nephrocalci(epmc).pdf DeepDyve Pubget Overpricing