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Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich, Nastassja; Dimitrov, Bianca; Geiger, Virginia; Zielonka, Matthias; Hutter, Anna-Marlen; Beedgen, Lars; Hüllen, Andreas; Breuer, Maximilian; Peters, Verena; Thiemann, Kai-Christian; Hoffmann, Georg F; Sinning, Irmgard; Dupré, Thierry; Vuillaumier-Barrot, Sandrine; Barrey, Catherine; Denecke, Jonas; Kölfen, Wolfgang; Düker, Gesche; Ganschow, Rainer; Lentze, Michael J; Moore, Stuart; Seta, Nathalie; Ziegler, Andreas; Thiel, Christian.
Afiliação
  • Himmelreich N; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Dimitrov B; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Geiger V; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Zielonka M; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Hutter AM; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Beedgen L; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Hüllen A; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Breuer M; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Peters V; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Thiemann KC; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Hoffmann GF; Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
  • Sinning I; Biochemistry Center (BZH), Heidelberg University, Heidelberg, Germany.
  • Dupré T; Department Biochimie, AP-HP, Hôpital Bichat, Biochimie, Paris, France.
  • Vuillaumier-Barrot S; Faculté de Médecine Xavier Bichat, INSERM U1149, Université Paris Diderot, Paris, France.
  • Barrey C; Department Biochimie, AP-HP, Hôpital Bichat, Biochimie, Paris, France.
  • Denecke J; Faculté de Médecine Xavier Bichat, INSERM U1149, Université Paris Diderot, Paris, France.
  • Kölfen W; Pédiatrie, Hôpital Sainte Camille, Bry-sur-Marne, France.
  • Düker G; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Ganschow R; Zentrum für Kinder und Jugendmedizin, Städtischen Kliniken Mönchengladbach, Mönchengladbach, Germany.
  • Lentze MJ; Department of Pediatrics, Children's Hospital Medical Center, University Hospitals Bonn, Bonn, Germany.
  • Moore S; Department of Pediatrics, Children's Hospital Medical Center, University Hospitals Bonn, Bonn, Germany.
  • Seta N; Department of Pediatrics, Children's Hospital Medical Center, University Hospitals Bonn, Bonn, Germany.
  • Ziegler A; Faculté de Médecine Xavier Bichat, INSERM U1149, Université Paris Diderot, Paris, France.
  • Thiel C; Department Biochimie, AP-HP, Hôpital Bichat, Biochimie, Paris, France.
Hum Mutat ; 40(7): 938-951, 2019 07.
Article em En | MEDLINE | ID: mdl-31067009
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase / Manosiltransferases / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase / Manosiltransferases / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos