3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

Autor: Hertzog, Ashley, Selvanathan, Arthavan, Pandithan, Dinusha, Kim, Won‐Tae, Kava, Maina P., Boneh, Avihu, Coman, David, Tolun, Adviye Ayper, Bhattacharya, Kaustuv
Zdroj: Journal of Inherited Metabolic Disease Reports; Nov2022, Vol. 63 Issue 6, p568-574, 7p
Databáze: Complementary Index
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