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...
| Autor principal: | |
|---|---|
| Outros Autores: | , , , |
| Formato: | article |
| Idioma: | eng |
| Publicado em: |
2013
|
| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.17/1568 |
| País: | Portugal |
| Oai: | oai:repositorio.chlc.min-saude.pt:10400.17/1568 |