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Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy.
Kara, Bülent; Genç, Hülya Maras; Uyur-Yalçin, Emek; Sakarya-Günes, Ayfer; Topçu, Ugur; Mülayim, Serap; Ceylaner, Serdar.
Afiliación
  • Kara B; Department of Pediatrics, Division of Child Neurology, Kocaeli University Medical Faculty, Umuttepe, Kocaeli 41380, Turkey. Electronic address: bkuskudar@gmail.com.
  • Genç HM; Department of Pediatrics, Division of Child Neurology, Kocaeli University Medical Faculty, Umuttepe, Kocaeli 41380, Turkey.
  • Uyur-Yalçin E; Department of Pediatrics, Division of Child Neurology, Kocaeli University Medical Faculty, Umuttepe, Kocaeli 41380, Turkey.
  • Sakarya-Günes A; Department of Pediatrics, Division of Child Neurology, Kocaeli University Medical Faculty, Umuttepe, Kocaeli 41380, Turkey.
  • Topçu U; Department of Pediatrics, Division of Child Neurology, Kocaeli University Medical Faculty, Umuttepe, Kocaeli 41380, Turkey.
  • Mülayim S; Department of Neurology, Kocaeli University Medical Faculty, Kocaeli, Turkey.
  • Ceylaner S; Intergen Genetic Centre, Ankara, Turkey.
Neuromuscul Disord ; 27(1): 94-97, 2017 Jan.
Article en En | MEDLINE | ID: mdl-27894792
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acidosis Láctica / Debilidad Muscular / Piruvato Deshidrogenasa (Lipoamida) / Extremidades Tipo de estudio: Etiology_studies Límite: Child / Humans / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acidosis Láctica / Debilidad Muscular / Piruvato Deshidrogenasa (Lipoamida) / Extremidades Tipo de estudio: Etiology_studies Límite: Child / Humans / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article Pais de publicación: Reino Unido