Sulfite Oxidase Deficiency – An Unusual Late and Mild Presentation
Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic...
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| Other Authors: | , , , |
| Format: | article |
| Language: | eng |
| Published: |
2013
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| Subjects: | |
| Online Access: | http://hdl.handle.net/10400.17/1568 |
| Country: | Portugal |
| Oai: | oai:repositorio.chlc.min-saude.pt:10400.17/1568 |