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Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.
Zeynalzadeh, Monica; Tafazoli, Alireza; Aarabi, Azadeh; Moghaddassian, Morteza; Ashrafzadeh, Farah; Houshmand, Massoud; Taghehchian, Negin; Abbaszadegan, Mohammad Reza.
Afiliação
  • Zeynalzadeh M; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Tafazoli A; Department of Genetics, University of North Carolina, Chapel Hill, NC, USA.
  • Aarabi A; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Moghaddassian M; Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Ashrafzadeh F; The Edward S. Rogers Sr. Department of Electrical and Computer Engineering, Faculty of Applied Science and Engineering, University of Toronto, Ontario, Canada.
  • Houshmand M; Department of Pediatric Neurology, Qaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Taghehchian N; Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.
  • Abbaszadegan MR; Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran.
J Pediatr Endocrinol Metab ; 31(2): 205-212, 2018 Jan 26.
Article em En | MEDLINE | ID: mdl-29306928
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aciltransferases / Modelos Moleculares / Mutação da Fase de Leitura / Mutação de Sentido Incorreto / Subunidades Proteicas / 3-Metil-2-Oxobutanoato Desidrogenase (Lipoamida) / Doença da Urina de Xarope de Bordo Limite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aciltransferases / Modelos Moleculares / Mutação da Fase de Leitura / Mutação de Sentido Incorreto / Subunidades Proteicas / 3-Metil-2-Oxobutanoato Desidrogenase (Lipoamida) / Doença da Urina de Xarope de Bordo Limite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2018 Tipo de documento: Article