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How to Detect Isolated PEX10-Related Cerebellar Ataxia?
Nava, Esmeralda; Hartmann, Britta; Boxheimer, Larissa; Capone Mori, Andrea; Nuoffer, Jean-Marc; Sargsyan, Yelena; Thoms, Sven; Rosewich, Hendrik; Boltshauser, Eugen.
Afiliación
  • Nava E; Department of Pediatric Neurology, Cantonal Hospital Aarau, Aarau, Switzerland.
  • Hartmann B; Department of Medical Genetics, Cantonal Hospital Aarau, Institute of Laboratory Medicine, Aarau, Switzerland.
  • Boxheimer L; Department of Neuroradiology, Cantonal Hospital Aarau, Aarau, Switzerland.
  • Capone Mori A; Department of Pediatric Neurology, Cantonal Hospital Aarau, Aarau, Switzerland.
  • Nuoffer JM; University Institute of Clinical Chemistry, Bern University Hospital, Bern, Switzerland.
  • Sargsyan Y; University Children's Hospital Pediatric Endocrinology, Diabetology and Metabolism, Bern, Switzerland.
  • Thoms S; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.
  • Rosewich H; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.
  • Boltshauser E; Department of Biochemistry and Molecular Medicine, Medical School, Bielefeld University, Bielefeld, Germany.
Neuropediatrics ; 53(3): 159-166, 2022 06.
Article en En | MEDLINE | ID: mdl-35038753

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Neuropediatrics Año: 2022 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Alemania

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Neuropediatrics Año: 2022 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Alemania