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10.1007/s11011-015-9707-8

http://scihub22266oqcxt.onion/10.1007/s11011-015-9707-8
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26194623!ä!26194623

suck abstract from ncbi


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pmid26194623      Metab+Brain+Dis 2015 ; 30 (6): 1537-45
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  • Severe early onset ethylmalonic encephalopathy with West syndrome #MMPMID26194623
  • Papetti L; Garone G; Schettini L; Giordano C; Nicita F; Papoff P; Zeviani M; Leuzzi V; Spalice A
  • Metab Brain Dis 2015[Dec]; 30 (6): 1537-45 PMID26194623show ga
  • Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.
  • |Amino Acid Sequence[MESH]
  • |Biomarkers/blood[MESH]
  • |Brain Diseases, Metabolic, Inborn/complications/*genetics/pathology[MESH]
  • |Brain/pathology[MESH]
  • |Electroencephalography[MESH]
  • |Female[MESH]
  • |Humans[MESH]
  • |Infant[MESH]
  • |Magnetic Resonance Imaging[MESH]
  • |Mitochondrial Proteins/genetics[MESH]
  • |Molecular Sequence Data[MESH]
  • |Muscle, Skeletal/metabolism/pathology[MESH]
  • |Mutation/genetics[MESH]
  • |Nucleocytoplasmic Transport Proteins/genetics[MESH]
  • |Purpura/complications/*genetics/pathology[MESH]


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