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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.
Ivanov, Ivan; Pacheva, Iliyana; Yordanova, Ralitsa; Sotkova, Iglika; Galabova, Fani; Gaberova, Katerina; Panova, Margarita; Gheneva, Ina; Tsvetanova, Tsvetelina; Noneva, Katerina; Dimitrova, Diana; Markov, Stoyan; Sapundzhiev, Nikolay; Bichev, Stoyan; Savov, Alexey.
Afiliación
  • Ivanov I; Department of Pediatrics, Saint George University Hospital, Plovdiv, Bulgaria.
  • Pacheva I; Department of Pediatrics and Medical Genetics, Medical University of Plovdiv, Plovdiv, Bulgaria.
  • Yordanova R; Research Institute, Medical University of Plovdiv, Plovdiv, Bulgaria.
  • Sotkova I; Department of Pediatrics, Saint George University Hospital, Plovdiv, Bulgaria.
  • Galabova F; Department of Pediatrics and Medical Genetics, Medical University of Plovdiv, Plovdiv, Bulgaria.
  • Gaberova K; Research Institute, Medical University of Plovdiv, Plovdiv, Bulgaria.
  • Panova M; Department of Pediatrics, Saint George University Hospital, Plovdiv, Bulgaria.
  • Gheneva I; Department of Pediatrics and Medical Genetics, Medical University of Plovdiv, Plovdiv, Bulgaria.
  • Tsvetanova T; Research Institute, Medical University of Plovdiv, Plovdiv, Bulgaria.
  • Noneva K; Department of Pediatrics, Saint George University Hospital, Plovdiv, Bulgaria.
  • Dimitrova D; Department of Pediatrics and Medical Genetics, Medical University of Plovdiv, Plovdiv, Bulgaria.
  • Markov S; Department of Pediatrics, Saint George University Hospital, Plovdiv, Bulgaria.
  • Sapundzhiev N; Department of Pediatrics, Saint George University Hospital, Plovdiv, Bulgaria.
  • Bichev S; Department of Pediatrics and Medical Genetics, Medical University of Plovdiv, Plovdiv, Bulgaria.
  • Savov A; Research Institute, Medical University of Plovdiv, Plovdiv, Bulgaria.
CNS Neurol Disord Drug Targets ; 22(2): 207-214, 2023.
Article en En | MEDLINE | ID: mdl-35189806
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Enfermedades Neurodegenerativas Límite: Humans / Infant Idioma: En Revista: CNS Neurol Disord Drug Targets Asunto de la revista: NEUROLOGIA / TERAPIA POR MEDICAMENTOS Año: 2023 Tipo del documento: Article País de afiliación: Bulgaria
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Enfermedades Neurodegenerativas Límite: Humans / Infant Idioma: En Revista: CNS Neurol Disord Drug Targets Asunto de la revista: NEUROLOGIA / TERAPIA POR MEDICAMENTOS Año: 2023 Tipo del documento: Article País de afiliación: Bulgaria