title: Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.
authors.affiliation: Marmara University, Division of Pediatric Allergy/Immunology, Istanbul, Turkey.
authors.forename: Ayca
authors.initials: A
authors.lastname: Kiykim
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Garncarz
authors.affiliation: Marmara University, Division of Pediatric Allergy/Immunology, Istanbul, Turkey.
authors.forename: Elif
authors.initials: E
authors.lastname: Karakoc-Aydiner
authors.affiliation: Marmara University, Division of Pediatric Allergy/Immunology, Istanbul, Turkey.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Ozen
authors.affiliation: Istanbul University, Cerrahpasa Medical Faculty, Division of Pediatric Metabolism and Nutrition, Istanbul, Turkey.
authors.forename: Ertugrul
authors.initials: E
authors.lastname: Kiykim
authors.affiliation: Bezmi Alem Vakif University Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey.
authors.forename: Gozde
authors.initials: G
authors.lastname: Yesil
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
authors.forename: Kaan
authors.initials: K
authors.lastname: Boztug
authors.affiliation: Marmara University, Division of Pediatric Allergy/Immunology, Istanbul, Turkey. Electronic address: safabaris@hotmail.com.
authors.forename: Safa
authors.initials: S
authors.lastname: Baris
mesh_terms: D002675:Child, Preschool; D049071:Endopeptidase Clp / Q000235:genetics*; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics*; D009122:Muscle Hypertonia / Q000209:etiology; D009154:Mutation; D009422:Nervous System Diseases / Q000209:etiology*; D009503:Neutropenia / Q000209:etiology*
chemical_list: D049071:Endopeptidase Clp; C000596639:CLPB protein, human
keywords: 3-Methylglutaconic acid; CLPB; Cataract; Epilepsy; Microcephaly; Severe congenital neutropenia