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

Internet

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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