Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.

Kiykim, Ayca

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. [electronic resource] - Clinical immunology (Orlando, Fla.) Apr 2016 - 1-3 p. digital

Publication Type: Case Reports; Letter

1521-7035

10.1016/j.clim.2016.02.008 doi


Child, Preschool
Endopeptidase Clp--genetics
Female
Humans
Metabolism, Inborn Errors--complications
Muscle Hypertonia--etiology
Mutation
Nervous System Diseases--etiology
Neutropenia--etiology