Publication | Open Access

Mutations in the Human Biotinidase Gene That Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical, and Clinical Analysis

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseClinical GeneticsPediatricsPathologySymptomatic ChildrenClinical AnalysisMedicineMolecular Medicine