DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

Abnormalities in metabolite profiles are valuable indicators of underlying pathologic conditions at the molecular level. However, their interpretation relies on detailed knowledge of the pathways, enzymes, and genes involved. Identification and characterization of their physiological function are th...

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Bibliographic Details
Main Authors: Danhauser, Katharina, Sauer, Sven W., Haack, Tobias B., Wieland, Thomas, Staufner, Christian, Graf, Elisabeth, Zschocke, Johannes, Strom, Tim M., Traub, Thorsten, Okun, Jürgen G., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger, Kölker, Stefan
Format: Artigo
Language:Inglês
Published: Elsevier 2012
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516599/
https://ncbi.nlm.nih.gov/pubmed/23141293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.10.006
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