title: DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease.
authors.affiliation: *Gazi University Faculty of Medicine, Pediatric Metabolic Unit, Beşevler, Ankara, Turkey †Vrije Universiteit Brussel, Center for Medical Genetics ‡Vrije Universiteit Brussel, Pediatric Neurology, Brussels, Belgium.
authors.forename: Ciğdem S
authors.initials: CS
authors.lastname: Kasapkara
authors.forename: Leyla
authors.initials: L
authors.lastname: Tümer
authors.forename: Aynur
authors.initials: A
authors.lastname: Küçükçongar
authors.forename: Alev
authors.initials: A
authors.lastname: Hasanoğlu
authors.forename: Sara
authors.initials: S
authors.lastname: Seneca
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
mesh_terms: D002353:Carrier State; D018388:Codon, Terminator; D003241:Consanguinity; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D017809:Fatal Outcome; D006008:Glycogen Storage Disease / Q000175:diagnosis; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010290:Parents; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D013163:Splenomegaly / Q000209:etiology
chemical_list: D018388:Codon, Terminator; D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase