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Prenatal brain disruption in isolated sulfite oxidase deficiency

BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encep...

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書目詳細資料
發表在:Orphanet J Rare Dis
Main Authors: Lee, Hsiu-Fen, Chi, Ching-Shiang, Tsai, Chi-Ren, Chen, Hung-Chieh, Lee, I-Chun
格式: Artigo
語言:Inglês
出版: BioMed Central 2017
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477159/
https://ncbi.nlm.nih.gov/pubmed/28629418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0668-3
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