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...
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| Autores principales: | , , , , |
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| Formato: | article |
| Lenguaje: | RU |
| Publicado: |
Scientific Сentre for Family Health and Human Reproduction Problems
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/7f8dc3e877894ec69a8a235eebdfbd93 |
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