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New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria
2-Ketoadipic aciduria (OMIM 204750), a defect in the catabolic pathway of tryptophan, lysine, and hydroxylysine, is characterized by elevations in 2-ketoadipic, 2-aminoadipic, and 2-hydroxyadipic acids. Patients with the aforementioned biochemical profile have been described with a wide range of cli...
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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5059180/ https://ncbi.nlm.nih.gov/pubmed/26141459 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_462 |
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