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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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Detalles Bibliográficos
Autores principales:	Lee, Hsiu-Fen, Chi, Ching-Shiang, Tsai, Chi-Ren, Chen, Hung-Chieh, Lee, I-Chun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477159/ https://www.ncbi.nlm.nih.gov/pubmed/28629418 http://dx.doi.org/10.1186/s13023-017-0668-3

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