Publication | Open Access

A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

Isovaleric AcidemiaGenetic DisorderGeneticsInherited Metabolic DiseaseHematologyPediatricsGenetic EpidemiologyMedical GeneticsPotentially Asymptomatic PhenotypeMedicineVariant InterpretationClinical Genetics