Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia - ÖZEN, AHMET OĞUZHAN; AYDINER, ELİF; BARIŞ, SAFA (My University, 2016)
Keywords: Female; Humans; Child, Preschool; Mutation; Nervous System Diseases; Epilepsy; Cataract; Metabolism, Inborn Errors; Neutropenia; Microcephaly; 3-Methylglutaconic acid; CLPB; Endopeptidase Clp; Muscle Hypertonia; Severe congenital neutropenia