Prenatal brain disruption in isolated sulfite oxidase deficiency

Prenatal brain disruption in isolated sulfite oxidase deficiency

Abstract 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-ischem...

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Bibliographic Details
Main Authors: Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee
Format: Article
Language:English
Published: BMC 2017-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Brain disruption
Brain MRI
Isolated sulfite oxidase deficiency
Prenatal period
Online Access:http://link.springer.com/article/10.1186/s13023-017-0668-3

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http://link.springer.com/article/10.1186/s13023-017-0668-3

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