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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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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | 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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