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Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.
Afjei, Seyedeh Atiyeh; Mohammadi, Mohammad Farid; Pourbakhtyaran, Elham; Ghabeli, Homa; Ashrafi, Mahmoud Reza; Haghighi, Roya; Rasulinezhad, Maryam; Pak, Neda; Tavasoli, Ali Reza; Heidari, Morteza.
Afiliación
  • Afjei SA; American University of the Caribbean School of Medicine, Pembroke Pines, USA.
  • Mohammadi MF; Department of Cell and Molecular Sciences, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran.
  • Pourbakhtyaran E; Pediatric Neurology Division, Pediatrics Center of Excellence, Children's Medical Center, Myelin Disorders Clinic, Tehran University of Medical Sciences, Tehran, Iran.
  • Ghabeli H; Pediatric Neurology Division, Pediatrics Center of Excellence, Children's Medical Center, Myelin Disorders Clinic, Tehran University of Medical Sciences, Tehran, Iran.
  • Ashrafi MR; Department of Pediatric Neurology, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Haghighi R; Pediatric Neurology Division, Pediatrics Center of Excellence, Children's Medical Center, Myelin Disorders Clinic, Tehran University of Medical Sciences, Tehran, Iran.
  • Rasulinezhad M; Pediatric Neurology Division, Pediatrics Center of Excellence, Children's Medical Center, Myelin Disorders Clinic, Tehran University of Medical Sciences, Tehran, Iran.
  • Pak N; Department of Radiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Tavasoli AR; Pediatric Neurology Division, Pediatrics Center of Excellence, Children's Medical Center, Myelin Disorders Clinic, Tehran University of Medical Sciences, Tehran, Iran. a_tavasoli@sina.tums.ac.ir.
  • Heidari M; Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, USA. a_tavasoli@sina.tums.ac.ir.
Neurogenetics ; 24(2): 67-78, 2023 04.
Article en En | MEDLINE | ID: mdl-36633690
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Desarrollo del Lenguaje / Trastornos del Movimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Female / Humans / Infant País/Región como asunto: Asia Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Desarrollo del Lenguaje / Trastornos del Movimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Female / Humans / Infant País/Región como asunto: Asia Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos