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Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Al Teneiji, Amal; Bruun, Theodora U J; Sidky, Sarah; Cordeiro, Dawn; Cohn, Ronald D; Mendoza-Londono, Roberto; Moharir, Mahendranath; Raiman, Julian; Siriwardena, Komudi; Kyriakopoulou, Lianna; Mercimek-Mahmutoglu, Saadet.
Afiliação
  • Al Teneiji A; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Bruun TU; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Biochemistry, Univ
  • Sidky S; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Cordeiro D; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Cohn RD; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Moharir M; Division of Neurology, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Raiman J; Birmingham's Children Hospital, Birmingham, England.
  • Siriwardena K; Department of Medical Genetics, University of Alberta, Edmonton, Canada.
  • Kyriakopoulou L; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mercimek-Mahmutoglu S; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Sciences, U
Mol Genet Metab ; 120(3): 235-242, 2017 03.
Article em En | MEDLINE | ID: mdl-28122681
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transferrina / Análise de Sequência de DNA / Defeitos Congênitos da Glicosilação / Redes Reguladoras de Genes / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Canadá
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transferrina / Análise de Sequência de DNA / Defeitos Congênitos da Glicosilação / Redes Reguladoras de Genes / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Canadá