Siblings with Ethylmalonic Encephalopathy: Case Report

• Principais autores: Çiğdem Seher Kasapkara (Autor), Ayşe Aksoy (Autor), Emine Polat (Autor), Mustafa Kılıç (Autor), Serdar Ceylaner (Autor)
• Formato: Livro
• Publicado em: Galenos Yayinevi, 2018-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes a rare inborn error of metabolism, ethylmalonic encephalopathy, which is characterized by early-onset encephalopathy, chronic hemorrhagic diarrhea, recurrent petechiae, orthostatic acrocyanosis, defective cytochrome C oxidase because of h...