Publication | Open Access

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Newborn ScreeningGenetic DisorderExome SequencingInherited Metabolic DiseaseGenetic EpidemiologyDiagnosisPathologyPediatricsHibch DeficiencyNewborn Screening CardsPrenatal DiagnosisPrenatal TestingMedicineClinical Genetics