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ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
Skopkova, Martina; Stufkova, Hana; Rambani, Vibhuti; Stranecky, Viktor; Brennerova, Katarina; Kolnikova, Miriam; Pietrzykova, Michaela; Karhanek, Miloslav; Noskova, Lenka; Tesarova, Marketa; Hansikova, Hana; Gasperikova, Daniela.
Afiliación
  • Skopkova M; Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Bratislava, Slovakia.
  • Stufkova H; Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Rambani V; Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Bratislava, Slovakia.
  • Stranecky V; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Brennerova K; Department of Paediatrics, Medical Faculty of Comenius University, National Institute of Children's Diseases, Bratislava, Slovakia.
  • Kolnikova M; Department of Paediatric Neurology, Medical Faculty of Comenius University, National Institute of Children's Diseases, Bratislava, Slovakia.
  • Pietrzykova M; Department of Clinical Genetics, Institute of Medical Biology, Genetics and Clinical Genetics, Medical Faculty of Comenius University, University Hospital in Bratislava, Bratislava, Slovakia.
  • Karhanek M; Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Bratislava, Slovakia.
  • Noskova L; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Tesarova M; Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Hansikova H; Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Gasperikova D; Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center SAS, Bratislava, Slovakia. daniela.gasperikova@savba.sk.
Orphanet J Rare Dis ; 18(1): 92, 2023 04 24.
Article en En | MEDLINE | ID: mdl-37095554
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ATPasas Asociadas con Actividades Celulares Diversas / Variación Biológica Poblacional / Mitocondrias Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Eslovaquia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ATPasas Asociadas con Actividades Celulares Diversas / Variación Biológica Poblacional / Mitocondrias Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2023 Tipo del documento: Article País de afiliación: Eslovaquia