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Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
Konkolová, J; Petrovic, R; Chandoga, J; Repiský, M; Zelinková, H; Krsiaková, J; Kolníková, M; Kantarská, D; Sutovský, S; Böhmer, D.
Afiliación
  • Konkolová J; Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital Bratislava, Mickiewiczova 13, 813 69 Bratislava, Slovakia. Electronic address: konkolovajanka@gmail.com.
  • Petrovic R; Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital Bratislava, Mickiewiczova 13, 813 69 Bratislava, Slovakia.
  • Chandoga J; Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital Bratislava, Mickiewiczova 13, 813 69 Bratislava, Slovakia.
  • Repiský M; Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital Bratislava, Mickiewiczova 13, 813 69 Bratislava, Slovakia.
  • Zelinková H; Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital Bratislava, Mickiewiczova 13, 813 69 Bratislava, Slovakia.
  • Krsiaková J; M-Genetik, S.R.O., P. Mudrona, 504/7, 03601 Martin, Slovakia.
  • Kolníková M; Department of Paediatric Neurology, University Pediatric Hospital, Comenius University, Faculty of Medicine, Limbova 1, 833 40 Bratislava, Slovakia.
  • Kantarská D; Department of Medical Genetics, University Hospital F.D. Roosvelta, Námestie Ludvíka Svobodu 1, 975 17 Banská Bystrica, Slovakia.
  • Sutovský S; 1st Department of Neurology, Comenius University, Faculty of Medicine & University Hospital Bratislava, Mickiewiczova 13, 813 69 Bratislava, Slovakia.
  • Böhmer D; Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital Bratislava, Mickiewiczova 13, 813 69 Bratislava, Slovakia.
Gene ; 568(1): 61-8, 2015 Aug 15.
Article en En | MEDLINE | ID: mdl-25967389
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Proteína-2 Multifuncional Peroxisomal Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Gene Año: 2015 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Proteína-2 Multifuncional Peroxisomal Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Gene Año: 2015 Tipo del documento: Article Pais de publicación: Países Bajos