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Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
Sen, Kuntal; Grahame, George; Bedoyan, Jirair K; Gropman, Andrea L.
Afiliación
  • Sen K; Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington DC, USA. Electronic address: ksen2@childrensnational.org.
  • Grahame G; Center for Inherited Disorders of Energy Metabolism, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
  • Bedoyan JK; Center for Inherited Disorders of Energy Metabolism, University Hospitals Cleveland Medical Center, Cleveland, OH, USA; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, USA; Department of Pediatrics, Case Western Reserve University, Cleveland, USA.
  • Gropman AL; Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington DC, USA.
Eur J Paediatr Neurol ; 31: 27-30, 2021 Mar.
Article en En | MEDLINE | ID: mdl-33592356
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa / Síndrome de Guillain-Barré / Piruvato Deshidrogenasa (Lipoamida) / Hemiplejía / Madres Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa / Síndrome de Guillain-Barré / Piruvato Deshidrogenasa (Lipoamida) / Hemiplejía / Madres Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2021 Tipo del documento: Article