Carregando...
Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome
A term girl infant delivered following foetal distress presented with early respiratory distress syndrome and lactic acidaemia. She subsequently underwent detailed investigation for primary lactic acidaemia and was identified as homozygous for the c.515A>G,p.(Tyr172Cys) missense variant in the LR...
Na minha lista:
| Publicado no: | BMJ Case Rep |
|---|---|
| Principais autores: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2019
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6663195/ https://ncbi.nlm.nih.gov/pubmed/31308188 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-229668 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|