机译:Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC) Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathy with Stridor and Severe Hearing and Visual Impairment. A Single Center Experience
Saint George University Hospital,Department of Pediatrics,Plovdiv,Bulgaria,|Medical University of;
Saint George University Hospital,Department of Pediatrics,Plovdiv,Bulgaria,;
Department of Pediatrics,Department of Pediatrics,Plovdiv,Bulgaria,|Medical University of PlovdivUniversity Hospital “St. Marina”, Medical University of Varna,Department of Pediatrics,VarnaSaint George University Hospital,Department of Radiology,Plovdiv,Bulgaria,ENT Clinic, Saint George University Hospital,Plovdiv,Bulgaria,|Medical Faculty, Medical UniversityUniversity Hospital “St. Marina”, Medical University of Varna,Department of OtorhinolaryngologyNational Genetic Laboratory, Maichin Dom University Hospital,Sofia,Bulgaria,;
H-ABC; Roma; UFM1; infant encephalopathy; extrapyramidal stridor; paroxysmal.;