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
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
Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation.
Bizjak N et al.
Molecular Genetics and Metabolism Reports, 2020
Select a paper to view details