ETHE1 mutations are specific to ethylmalonic encephalopathy

Mutations in ETHE1, a gene located at chromosome 19q13, have recently been identified in patients affected by ethylmalonic encephalopathy (EE). EE is a devastating infantile metabolic disorder, characterised by widespread lesions in the brain, hyperlactic acidaemia, petechiae, orthostatic acrocyanos...

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書誌詳細
主要な著者: Tiranti, V, Briem, E, Lamantea, E, Mineri, R, Papaleo, E, De Gioia, L, Forlani, F, Rinaldo, P, Dickson, P, Abu‐Libdeh, B, Cindro‐Heberle, L, Owaidha, M, Jack, R M, Christensen, E, Burlina, A, Zeviani, M
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2006
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563233/
https://ncbi.nlm.nih.gov/pubmed/16183799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.036210
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