Novel HLCS Mutations in two Chinese children with Holocarboxylase Synthetase Deficiency
We believe this study fits well within the scope of BMC Medical Genomics , especially considering its focus on inborn errors of metabolism in newborns, early screening, diagnosis, and clinical management. With its wide reach and impact, we are confident that your journal can effectively disseminate our findings to clinicians and researchers worldwide, potentially informing discussions on assessment, treatment, management strategies, and health decisions.