Aspects of Newborn Screening in Isovaleric Acidemia
Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker metabolite used for newborn screening (NBS). The inc...
Збережено в:
| Автори: | , , , |
|---|---|
| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
MDPI AG
2018-01-01
|
| Серія: | International Journal of Neonatal Screening |
| Предмети: | |
| Онлайн доступ: | http://www.mdpi.com/2409-515X/4/1/7 |
| Теги: |
Немає тегів, Будьте першим, хто поставить тег для цього запису!
|