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Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency
In this report we describe the first human case of hypertryptophanemia confirmed to be due to tryptophan 2,3-dioxygenase deficiency. The underlying etiology was established by sequencing the TDO2 gene, in which there was compound heterozygosity for two rare variants: c.324G>C, p.Met108Ile and c.4...
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| Publicat a: | Mol Genet Metab |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5421356/ https://ncbi.nlm.nih.gov/pubmed/28285122 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.02.009 |
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