Genes, Vol. 12, Pages 703: Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency

This study indicates that two rare autosomal recessive disorders should be considered in consanguineous families, more specifically in those with atypical presentation.

Source: Genes - May 8, 2021 Category: Genetics & Stem Cells Authors: Amanat Ali Nahid Al Dhahouri Fatmah Saeed Ali Almesmari Waseem Mahmoud Fathalla Fatma Al Jasmi Tags: Case Report Source Type: research