Siblings with Ethylmalonic Encephalopathy: Case Report

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...

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Detalhes bibliográficos
Main Authors: Çiğdem Seher Kasapkara, Ayşe Aksoy, Emine Polat, Mustafa Kılıç, Serdar Ceylaner
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Yayinevi 2018-03-01
Colecção:Journal of Pediatric Research
Assuntos:
Acrocyanosis
developmental delay
ETHE1
ethylmalonic encephalopathy
Acesso em linha: http://jpedres.org/archives/archive-detail/article-preview/siblings-with-ethylmalonic-encephalopathy-case-rep/18780
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