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Proximal urea cycle defects are challenging to detect with ..:

Hall, Patricia Liane ; Wittenauer, Angela Lynn ; Wilcox, William Ross
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  190 (2022)  2 - p. 178-186 , 2022
Link: https://doi.org/10.1002/ajmg.c.31996