Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings.

CONCLUSION: We present two patients with GA-3 and a novel mutation in the SUGCT gene. Our findings expand the spectrum of causative mutations and clinical findings in GA-3. PMID: 32779420 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research