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Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances
Amino acids are organic molecules that serve as basic substrates for protein synthesis and have additional key roles in a diverse array of cellular functions, including cell signaling, gene expression, energy production and molecular biosynthesis. Genetic defects in the synthesis, catabolism or tran...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Company of Biologists Ltd
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690057/ https://www.ncbi.nlm.nih.gov/pubmed/37994477 http://dx.doi.org/10.1242/dmm.050233 |