Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

OBJECTIVE: We aimed to decipher the molecular genetic basis of disease in a cohort of children with a uniform clinical presentation of neonatal irritability, spastic or dystonic quadriplegia, virtually absent psychomotor development, axonal neuropathy, and elevated blood/CSF lactate. METHODS: We per...

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出版年:Neurology
主要な著者: Anttonen, Anna-Kaisa, Hilander, Taru, Linnankivi, Tarja, Isohanni, Pirjo, French, Rachel L., Liu, Yuchen, Simonović, Miljan, Söll, Dieter, Somer, Mirja, Muth-Pawlak, Dorota, Corthals, Garry L., Laari, Anni, Ylikallio, Emil, Lähde, Marja, Valanne, Leena, Lönnqvist, Tuula, Pihko, Helena, Paetau, Anders, Lehesjoki, Anna-Elina, Suomalainen, Anu, Tyynismaa, Henna
フォーマット: Artigo
言語:Inglês
出版事項: Lippincott Williams & Wilkins 2015
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4520820/
https://ncbi.nlm.nih.gov/pubmed/26115735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001787
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