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10.1007/s11011-017-0152-8

http://scihub22266oqcxt.onion/10.1007/s11011-017-0152-8
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29159724!ä!29159724

suck abstract from ncbi


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pmid29159724      Metab+Brain+Dis 2018 ; 33 (3): 977-979
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  • Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency #MMPMID29159724
  • Bulut FD; Kor D; Seker-Yilmaz B; Gul-Mert G; Kilavuz S; Onenli-Mungan N
  • Metab Brain Dis 2018[Jun]; 33 (3): 977-979 PMID29159724show ga
  • Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.
  • |*Diagnostic Errors[MESH]
  • |Acyl-CoA Dehydrogenase/*deficiency[MESH]
  • |Brain Diseases, Metabolic, Inborn/*diagnosis[MESH]
  • |Humans[MESH]
  • |Infant[MESH]
  • |Lipid Metabolism, Inborn Errors/*diagnosis[MESH]
  • |Male[MESH]


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