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Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Himmelreich, Nastassja; Kikul, Frauke; Zdrazilova, Lucie; Honzik, Tomás; Hecker, Andreas; Poschet, Gernot; Lüchtenborg, Christian; Brügger, Britta; Strahl, Sabine; Bürger, Friederike; Okun, Jürgen G; Hansikova, Hana; Thiel, Christian.
Afiliación
  • Himmelreich N; Centre for Child and Adolescent Medicine, Department I, Heidelberg University, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany.
  • Kikul F; Heidelberg University Biochemistry Center (BZH), Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.
  • Zdrazilova L; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
  • Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
  • Hecker A; Centre for Child and Adolescent Medicine, Department I, Heidelberg University, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany.
  • Poschet G; Centre for Organismal Studies (COS), Plant Molecular Biology, Heidelberg University, Im Neuenheimer Feld 360, 69120 Heidelberg, Germany.
  • Lüchtenborg C; Heidelberg University Biochemistry Center (BZH), Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.
  • Brügger B; Heidelberg University Biochemistry Center (BZH), Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.
  • Strahl S; Centre for Organismal Studies (COS), Glycobiology, Heidelberg University, Im Neuenheimer Feld 360, 69120 Heidelberg, Germany.
  • Bürger F; Centre for Child and Adolescent Medicine, Department I, Heidelberg University, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany.
  • Okun JG; Centre for Child and Adolescent Medicine, Department I, Heidelberg University, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany.
  • Hansikova H; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
  • Thiel C; Centre for Child and Adolescent Medicine, Department I, Heidelberg University, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany. Electronic address: christian.thiel@med.uni-heidelberg.de.
Mol Genet Metab ; 139(3): 107610, 2023 07.
Article en En | MEDLINE | ID: mdl-37245379
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfotransferasas (Fosfomutasas) / Trastornos Congénitos de Glicosilación Límite: Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfotransferasas (Fosfomutasas) / Trastornos Congénitos de Glicosilación Límite: Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Alemania