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10.1016/s0887-8994(97)00048-9 http://scihub22266oqcxt.onion/10.1016/s0887-8994(97)00048-9 9367300!ä!9367300 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Pediatr+Neurol 1997 ; 17 (2): 165-70 Nephropedia Template TP {{tp|p=9367300|t=1997. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria |pdf=|usr=}}{{9367300}} gab.com Text Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria JO: Pediatr Neurol http://www.kidney.de/pget.php?&tw=1&pmid=9367300 #FOAvip We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. Magnetic resonance imaging (MRI) of the brain demonstrated bilateral lesions in the lenticular and caudate nuclei, periaqueductal region, subcortical areas, white matter, and brainstem. Short and medium chain Acyl-CoA dehydrogenase and cytochrome c oxidase (COX) activities in fibroblasts were normal. Muscle histochemistry disclosed diffuse COX deficiency, and respiratory chain activities in muscle disclosed severe COX deficiency. Twelve other patients with similar clinical features have been reported. Muscle COX activity, studied only in four, demonstrated a clear-cut defect. Twit Text FOAVip Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria ????Pediatr Neurol http://www.kidney.de/pget.php?&tw=1&pmid=9367300 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=9367300 #FOAvip English Wikipedia <ref>{{Cite pmid|9367300}}</ref> Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria #MMPMID9367300 Garcia-Silva MT; Ribes A; Campos Y; Garavaglia B; Arenas J Pediatr Neurol 1997[Sep]; 17 (2): 165-70 PMID9367300show ga We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. Magnetic resonance imaging (MRI) of the brain demonstrated bilateral lesions in the lenticular and caudate nuclei, periaqueductal region, subcortical areas, white matter, and brainstem. Short and medium chain Acyl-CoA dehydrogenase and cytochrome c oxidase (COX) activities in fibroblasts were normal. Muscle histochemistry disclosed diffuse COX deficiency, and respiratory chain activities in muscle disclosed severe COX deficiency. Twelve other patients with similar clinical features have been reported. Muscle COX activity, studied only in four, demonstrated a clear-cut defect. |*Cytochrome-c Oxidase Deficiency[MESH] |Brain/pathology[MESH] |DNA, Mitochondrial/genetics[MESH] |Humans[MESH] |Infant[MESH] |Leigh Disease/diagnosis/enzymology/*genetics[MESH] |Male[MESH] |Malonates/*urine[MESH] |Muscle, Skeletal/pathology[MESH]Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria (epmc).pdf DeepDyve Pubget Overpricing