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Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.
Tavasoli, Ali Reza; Shervin Badv, Reza; Zschocke, Johannes; Ashrafi, Mahmood Reza; Rostami, Parastoo.
Afiliación
  • Tavasoli AR; Pediatric Neurology Division, Neurometabolic Registry Center, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
  • Shervin Badv R; Pediatric Neurology Division, Neurometabolic Registry Center, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
  • Zschocke J; Division of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.
  • Ashrafi MR; Pediatric Neurology Division, Neurometabolic Registry Center, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
  • Rostami P; Division of Endocrinology and Metabolism, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: drp_rostami@yahoo.com.
Brain Dev ; 39(8): 714-716, 2017 Sep.
Article en En | MEDLINE | ID: mdl-28438368

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Proteínas de Unión al ARN / Enoil-CoA Hidratasa / Errores Innatos del Metabolismo / Mutación Límite: Child, preschool / Humans / Male Idioma: En Revista: Brain Dev Año: 2017 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Países Bajos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Proteínas de Unión al ARN / Enoil-CoA Hidratasa / Errores Innatos del Metabolismo / Mutación Límite: Child, preschool / Humans / Male Idioma: En Revista: Brain Dev Año: 2017 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Países Bajos