Shortcast: 3-Methylglutaconyl-CoA hydratase deficiency: Ascertainment bias vs biochemical diagnosis
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Ashley Hertzog returns to the shortcast to discuss how ascertainment bias may hinder the assessment of clinical phenotype in patients with 3-Methylglutaconyl-CoA hydratase deficiency.
3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis
Ashley Hertzog, et al
https://doi.org/10.1002/jmd2.12332
Shortcast: 3-Methylglutaconyl-CoA hydratase deficiency: Ascertainment bias vs biochemical diagnosis