A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common known genetic disorder of fatty acid oxidation. Most (approximately 80%) cases are homozygous for a single mutation: A to G replacement at nucleotide 985 (A985G). MCAD deficiency typically presents in the second year of life as...
Kaydedildi:
| Yayımlandı: | J Clin Invest |
|---|---|
| Asıl Yazarlar: | , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
American Society for Clinical Investigation
1994
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295287/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7929823/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117486 |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|