Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview
Inherited metabolic diseases are a large group of inherited monogenic diseases. Metabolic disorders can cause child disability and mortality. Tandem mass spectrometry is a powerful technology that allows to diagnosis a large number of hereditary metabolic diseases. Clinical manifestations are variab...
Enregistré dans:
| Auteurs principaux: | , , , , |
|---|---|
| Format: | article |
| Langue: | RU |
| Publié: |
Scientific Сentre for Family Health and Human Reproduction Problems
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/7f8dc3e877894ec69a8a235eebdfbd93 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|