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http://scihub22266oqcxt.onion/ 21048580!ä!21048580 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Neurosciences+(Riyadh) 2009 ; 14 (1): 78-80 Nephropedia Template TP {{tp|p=21048580|t=2009. Ethylmalonic encephalopathy Another patient from Kuwait |pdf=|usr=}}{{21048580}} gab.com Text Ethylmalonic encephalopathy Another patient from Kuwait JO: Neurosciences (Riyadh) http://www.kidney.de/pget.php?&tw=1&pmid=21048580 #FOAvip We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4 months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 months she developed myoclonic epilepsy. She was found to have central hypotonia with pyramidal tract signs, acrocyanosis, and petechiae. Plasma lactate level was elevated. Blood spot and urine for organic acids results were consistent with the diagnosis of ethylmalonic encephalopathy. Cerebral MRI showed basal ganglia and white matter changes. Gene mutation study revealed homozygous deletion of exon 4 of the ETHE1 gene. The patient died at 14 months after extensive bronchopneumonia. Our objective is to alert physicians to the existence of such a devastating disease in our community and their role in the early diagnosis in the index patient for proper genetic counseling. Twit Text FOAVip Ethylmalonic encephalopathy Another patient from Kuwait ????Neurosciences (Riyadh) http://www.kidney.de/pget.php?&tw=1&pmid=21048580 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=21048580 #FOAvip English Wikipedia <ref>{{Cite pmid|21048580}}</ref> Ethylmalonic encephalopathy Another patient from Kuwait #MMPMID21048580 Ismail EA; Seoudi TM; Morsi EA; Ahmad AH Neurosciences (Riyadh) 2009[Jan]; 14 (1): 78-80 PMID21048580show ga We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4 months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 months she developed myoclonic epilepsy. She was found to have central hypotonia with pyramidal tract signs, acrocyanosis, and petechiae. Plasma lactate level was elevated. Blood spot and urine for organic acids results were consistent with the diagnosis of ethylmalonic encephalopathy. Cerebral MRI showed basal ganglia and white matter changes. Gene mutation study revealed homozygous deletion of exon 4 of the ETHE1 gene. The patient died at 14 months after extensive bronchopneumonia. Our objective is to alert physicians to the existence of such a devastating disease in our community and their role in the early diagnosis in the index patient for proper genetic counseling. äEthylmalonic encephalopathy Another patient from Kuwait (epmc).pdf DeepDyve Pubget Overpricing