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10.1177/0883073812449070 http://scihub22266oqcxt.onion/10.1177/0883073812449070 22805253!ä!22805253 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 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       J+Child+Neurol 2013 ; 28 (5): 668-71 Nephropedia Template TP {{tp|p=22805253|t=2013. An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder |pdf=|usr=}}{{22805253}} gab.com Text An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder JO: J Child Neurol http://www.kidney.de/pget.php?&tw=1&pmid=22805253 #FOAvip A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. Twit Text FOAVip An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder ????J Child Neurol http://www.kidney.de/pget.php?&tw=1&pmid=22805253 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=22805253 #FOAvip English Wikipedia <ref>{{Cite pmid|22805253}}</ref> An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder #MMPMID22805253 Pavlou E; Augoustides-Savvopoulou P; Gregersen N; Haas D; Gkampeta A; Athanassiadou-Piperopoulou F J Child Neurol 2013[May]; 28 (5): 668-71 PMID22805253show ga A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. |Alleles[MESH] |Atrophy[MESH] |Brain Diseases, Metabolic, Inborn/*diagnosis/genetics[MESH] |Brain/pathology[MESH] |Chromosome Deletion[MESH] |DNA Mutational Analysis[MESH] |Diagnosis, Differential[MESH] |Exons/genetics[MESH] |Fatal Outcome[MESH] |Humans[MESH] |Image Interpretation, Computer-Assisted[MESH] |Infant[MESH] |Leukocytosis/*etiology[MESH] |Magnetic Resonance Imaging[MESH] |Male[MESH] |Malonates/urine[MESH] |Mitochondrial Proteins/genetics[MESH] |Nucleocytoplasmic Transport Proteins/genetics[MESH] |Purpura/diagnosis/*etiology/genetics[MESH]An infant with ethylmalonic encephalopathy masquerading as a hematolog(epmc).pdf DeepDyve Pubget Overpricing