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Methenyltetrahydrofolate synthease deficiency (MTHFS deficiency): Novel mutation and brain MRI findings: A case report and glance to other cases.
Vafaee-Shahi, Mohammad; Amirkashani, Davoud; Ashrafi, Mahmoud Reza; Tahernia, Leila; Riahi, Aina.
Afiliação
  • Vafaee-Shahi M; Assistant professor of Pediatric Neurology, Faculty of medicine, Pediatric Growth and Development Research Centre, Iran University of Medical Sciences, Tehran, Iran.
  • Amirkashani D; Department of Pediatric endocrinology, Faculty of medicine, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran.
  • Ashrafi MR; Professor of Pediatric Neurology, Faculty of medicine, Pediatric Growth and Development Research Centre, Children Medical Centre, Tehran University of Medical Sciences, Tehran, Iran.
  • Tahernia L; Pediatric Critical Care Fellowship, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Riahi A; Paediatrician, Faculty of medicine, Pediatric Growth and Development Research Centre, Iran University of Medical Sciences, Tehran, Iran. Electronic address: riahi.a@iums.ir.
Clin Neurol Neurosurg ; 215: 107153, 2022 04.
Article em En | MEDLINE | ID: mdl-35219051
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Microcefalia / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Microcefalia / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article