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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JIMD Rep
Prif Awduron: Stiles, Ashlee R., Venturoni, Leah, Mucci, Grace, Elbalalesy, Naser, Woontner, Michael, Goodman, Stephen, Abdenur, Jose E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Berlin Heidelberg 2015
Pynciau:
Article
Mynediad Ar-lein: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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