Associated Papers
Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.
Osmanovic A et al.
Genes, 2021
Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.
Sherrill JD et al.
Jci Insight, 2018
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
Biagosch C et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
Stiles AR et al.
Jimd Reports, 2016
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
Danhauser K et al.
American Journal of Human Genetics, 2012
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