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10.1007/s11011-016-9928-5 http://scihub22266oqcxt.onion/10.1007/s11011-016-9928-5 27830356!ä!27830356 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 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Metab+Brain+Dis 2017 ; 32 (2): 293-296 Nephropedia Template TP {{tp|p=27830356|t=2017. Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine |pdf=|usr=}}{{27830356}} gab.com Text Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine JO: Metab Brain Dis http://www.kidney.de/pget.php?&tw=1&pmid=27830356 #FOAvip Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic but later diagnosed ethylmalonic encephalopathy. Molecular analyses revealed a homozygous c.554 T > G; p. L185R mutation in ETHE1 gene. She was only partially benefited from riboflavine, coenzyme Q10, metronidazole, N-acetylcysteine and symptomatic treatment and discharged from hospital with the sequela of oxygene dependance and developmental delay. We observed N-acetylcysteine 100 mg/kg/day intravenous infusion theraphy may be the most important drug especially in comatous EE patients. Twit Text FOAVip Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine ????Metab Brain Dis http://www.kidney.de/pget.php?&tw=1&pmid=27830356 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27830356 #FOAvip English Wikipedia <ref>{{Cite pmid|27830356}}</ref> Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine #MMPMID27830356 Kilic M; Dedeoglu O; Gocmen R; Kesici S; Yuksel D Metab Brain Dis 2017[Apr]; 32 (2): 293-296 PMID27830356show ga Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic but later diagnosed ethylmalonic encephalopathy. Molecular analyses revealed a homozygous c.554 T > G; p. L185R mutation in ETHE1 gene. She was only partially benefited from riboflavine, coenzyme Q10, metronidazole, N-acetylcysteine and symptomatic treatment and discharged from hospital with the sequela of oxygene dependance and developmental delay. We observed N-acetylcysteine 100 mg/kg/day intravenous infusion theraphy may be the most important drug especially in comatous EE patients. |Acetylcysteine/administration & dosage/*therapeutic use[MESH] |Brain Diseases, Metabolic, Inborn/diagnostic imaging/*drug therapy/metabolism[MESH] |Coma/drug therapy/etiology[MESH] |Female[MESH] |Humans[MESH] |Infant[MESH] |Infusions, Intravenous[MESH] |Magnetic Resonance Imaging[MESH] |Malonates[MESH] |Mitochondrial Proteins/genetics[MESH] |Nucleocytoplasmic Transport Proteins/genetics[MESH]Successful treatment of a patient with ethylmalonic encephalopathy by (epmc).pdf DeepDyve Pubget Overpricing