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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2018-03-01
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| Series: | Journal of Pediatric Research |
| Subjects: | |
| Online Access: |
http://jpedres.org/archives/archive-detail/article-preview/siblings-with-ethylmalonic-encephalopathy-case-rep/18780
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