Associated Papers
3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.
Hertzog A et al.
Jimd Reports, 2022
36341175 (PubMed )
Supplement: JMD2-63-568-s001.xlsx › Supplementary_Table_1
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Nardecchia F et al.
International Journal of Molecular Sciences, 2022
Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.
Tavasoli AR et al.
Brain & Development, 2017
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