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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-28438368

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / RNA-Binding Proteins / Enoyl-CoA Hydratase / Metabolism, Inborn Errors / Mutation Limits: Child, preschool / Humans / Male Language: En Journal: Brain Dev Year: 2017 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / RNA-Binding Proteins / Enoyl-CoA Hydratase / Metabolism, Inborn Errors / Mutation Limits: Child, preschool / Humans / Male Language: En Journal: Brain Dev Year: 2017 Document type: Article Affiliation country: Country of publication: