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10.1007/8904_2014_405 http://scihub22266oqcxt.onion/10.1007/8904_2014_405 C4486270!4486270 !25663424     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\25663424 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       JIMD+Rep 2015 ; 22 (ä): 11-6 Nephropedia Template TP {{tp|p=25663424 |t=2015. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism |pdf=|usr=}}{{25663424 }} gab.com Text Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism JO: JIMD Rep http://www.kidney.de/pget.php?&tw=1&pmid=25663424 #FOAvip BACKGROUND: Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Brain MRI showed brain atrophy, delayed myelination, and simplified gyriform pattern. METHODS: We report ASD deficiency in a 2- and 4-year-old sibling. On them, we described clinical, biochemical, and molecular findings, and we compared our results with previously reported cases. RESULTS: We identified a homozygous novel missense mutation in ASNS gene in both probands and we demonstrated low CSF and plasma asparagine in both patients. CONCLUSIONS: Clinicians should suspect ASD deficiency in any newborn presented with severe congenital microcephaly followed by severe epileptic encephalopathy and global developmental delay. CSF asparagine level is low in this disorder while plasma may be low. Twit Text FOAVip Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism ????JIMD Rep http://www.kidney.de/pget.php?&tw=1&pmid=25663424 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25663424 #FOAvip English Wikipedia <ref>{{Cite pmid|25663424 }}</ref> Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism #MMPMID25663424 Alfadhel M ; Alrifai MT ; Trujillano D ; Alshaalan H ; Al Othaim A ; Al Rasheed S ; Assiri H ; Alqahtani AA ; Alaamery M ; Rolfs A ; Eyaid W JIMD Rep 2015[]; 22 (ä): 11-6 PMID25663424 show ga BACKGROUND: Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Brain MRI showed brain atrophy, delayed myelination, and simplified gyriform pattern. METHODS: We report ASD deficiency in a 2- and 4-year-old sibling. On them, we described clinical, biochemical, and molecular findings, and we compared our results with previously reported cases. RESULTS: We identified a homozygous novel missense mutation in ASNS gene in both probands and we demonstrated low CSF and plasma asparagine in both patients. CONCLUSIONS: Clinicians should suspect ASD deficiency in any newborn presented with severe congenital microcephaly followed by severe epileptic encephalopathy and global developmental delay. CSF asparagine level is low in this disorder while plasma may be low. äAsparagine Synthetase Deficiency: New Inborn Errors of Metabolism (epmc).pdf DeepDyve Pubget Overpricing