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Article

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.

American journal of human genetics - 7 Dec 2012

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

Abstract excerpt

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 therefore crucial for our understanding of human disease: they can provide guidance for therapeutic intervention and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23141293
DOI: 10.1016/j.ajhg.2012.10.006
PMCID: PMC3516599

Genes

DHTKD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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