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"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Raynor, Alexandre; Bruneel, Arnaud; Vermeersch, Pieter; Cholet, Sophie; Friedrich, Sebastian; Eckenweiler, Matthias; Schumann, Anke; Hengst, Simone; Tuncel, Ali Tunç; Fenaille, François; Thiel, Christian; Rymen, Daisy.
Afiliação
  • Raynor A; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat, Paris, France.
  • Bruneel A; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat, Paris, France.
  • Vermeersch P; INSERM UMR1193, Faculté de Pharmacie, Université Paris-Saclay, bâtiment Henri Moissan, Orsay, France.
  • Cholet S; Clinical Department of Laboratory Medicine, UZ Leuven, Leuven, Belgium.
  • Friedrich S; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé (DMTS), MetaboHUB, Gif sur Yvette, France.
  • Eckenweiler M; Centre for Child and Adolescent Medicine Freiburg, Department of General Paediatrics, Adolescent Medicine and Neonatology, Freiburg, Germany.
  • Schumann A; Department of Neuropediatrics and Muscle Disorders, Centre for Child and Adolescent Medicine Freiburg, Freiburg, Germany.
  • Hengst S; Centre for Child and Adolescent Medicine Freiburg, Department of General Paediatrics, Adolescent Medicine and Neonatology, Freiburg, Germany.
  • Tuncel AT; Department 1, Centre for Child and Adolescent Medicine Heidelberg, Heidelberg, Germany.
  • Fenaille F; Department 1, Centre for Child and Adolescent Medicine Heidelberg, Heidelberg, Germany.
  • Thiel C; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé (DMTS), MetaboHUB, Gif sur Yvette, France.
  • Rymen D; Department 1, Centre for Child and Adolescent Medicine Heidelberg, Heidelberg, Germany.
Proteomics Clin Appl ; 18(2): e2300040, 2024 Mar.
Article em En | MEDLINE | ID: mdl-37876147
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação Limite: Humans Idioma: En Revista: Proteomics Clin Appl Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação Limite: Humans Idioma: En Revista: Proteomics Clin Appl Ano de publicação: 2024 Tipo de documento: Article