Associated Papers
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
39423307 (PubMed )
Supplement: awae324_supplementary_data.zip › brain-2024-01629-File014.pdf
Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening.
Itonaga T et al.
Molecular Genetics and Metabolism Reports, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
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
Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.
Mack M et al.
The Febs Journal, 2006
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I.
Matsumori M et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2005
Fungal metabolic model for type I 3-methylglutaconic aciduria.
Rodríguez JM et al.
The Journal of Biological Chemistry, 2004
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
Ly TB et al.
Human Mutation, 2003
3-Methylglutaconic aciduria type I is caused by mutations in AUH.
IJlst L et al.
American Journal of Human Genetics, 2002
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