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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Scientific Сentre for Family Health and Human Reproduction Problems
2021-11-01
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| Series: | Acta Biomedica Scientifica |
| Subjects: | |
| Online Access: | https://www.actabiomedica.ru/jour/article/view/3041 |