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Amino acid synthesis deficiencies
In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer Netherlands
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500668/ https://www.ncbi.nlm.nih.gov/pubmed/28653176 http://dx.doi.org/10.1007/s10545-017-0063-1 |