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Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
Craiu, Dana; Dragostin, Octavia; Dica, Alice; Hoffman-Zacharska, Dorota; Gos, Monika; Bastian, Alexandra Eugenia; Gherghiceanu, Mihaela; Rolfs, Arndt; Nahavandi, Nahid; Craiu, Mihai; Iliescu, Catrinel.
Afiliación
  • Craiu D; "Carol Davila" University of Medicine Bucharest, Department of Neurology, Pediatric Neurology, Psychiatry, Neurosurgery, Discipline Pediatric Neurology, Romania; Pediatric Neurology Clinic, "Alexandru Obregia" Clinical Psychiatric Hospital, Sos. Berceni 10-12, Sector 4, Bucharest, Romania. Electroni
  • Dragostin O; Pediatric Neurology Clinic, "Alexandru Obregia" Clinical Psychiatric Hospital, Sos. Berceni 10-12, Sector 4, Bucharest, Romania. Electronic address: octaviadragostin@yahoo.com.
  • Dica A; Pediatric Neurology Clinic, Research Department, "Alexandru Obregia" Clinical Psychiatric Hospital, Sos. Berceni 10-12, Sector 4, Bucharest, Romania. Electronic address: dica_denisa@yahoo.com.
  • Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland. Electronic address: dhoffman@wp.pl.
  • Gos M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland. Electronic address: monika.gos@imid.med.pl.
  • Bastian AE; "Carol Davila" University of Medicine Bucharest, Department II, Dental Medicine, Pathology Discpline, Romania; Pathology Lab., Colentina University Hospital, Sos Stefan cel Mare 19-21, Sector 2, 020125 Bucharest, Romania. Electronic address: aleca.bastian@yahoo.com.
  • Gherghiceanu M; Ultrastructural Pathology Lab., 'Victor Babes' National Institute of Pathology, 99-101 Spl. Independentei, 050096 Bucharest 5, Romania. Electronic address: mgherghiceanu@yahoo.com.
  • Rolfs A; Albrecht-Kossel-Institute for Neurogenetics, Medical Faculty, University of Rostock, Gehlsheimerstrasse 20, 18157 Rostock, Germany; Centogene AG, Schillingallee 69, 18057 Rostock, Germany. Electronic address: Arndt.Rolfs@centogene.com.
  • Nahavandi N; Centogene AG, Schillingallee 69, 18057 Rostock, Germany. Electronic address: Nahid.Nahavandi@centogene.com.
  • Craiu M; "Carol Davila" University of Medicine Bucharest, Department of Pediatrics and Medical Genetics, Discipline Pediatrics, Romania; Pediatric II Clinic, "Alfred Rusescu" Clinical Pediatric Hospital, Institute of Mother and Child Health, B-dul Lacul Tei No. 120, Sector 2, Bucharest, Romania. Electronic a
  • Iliescu C; "Carol Davila" University of Medicine Bucharest, Department of Neurology, Pediatric Neurology, Psychiatry, Neurosurgery, Discipline Pediatric Neurology, Romania; Pediatric Neurology Clinic, "Alexandru Obregia" Clinical Psychiatric Hospital, Sos. Berceni 10-12, Sector 4, Bucharest, Romania. Electroni
Eur J Paediatr Neurol ; 19(1): 78-86, 2015 Jan.
Article en En | MEDLINE | ID: mdl-25439737
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Síndrome de Rett / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Child / Female / Humans Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Síndrome de Rett / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Child / Female / Humans Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2015 Tipo del documento: Article