Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Anne Erlekotte"'
Autor:
Thorsten Marquardt, Anne Erlekotte, Torsten Stölting, Heymut Omran, Janine Reunert, Jonas Denecke
Publikováno v:
Molecular Genetics and Metabolism. 98:305-309
Congenital disorders of glycosylation (CDG) are an expanding group of inherited disorders caused by defects in the N- or O-Glycosylation of proteins and lipids. Several CDG subtypes have been described so far, including CDG type Ih which is caused by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1624f96ac9df6ae3f19f28a642c13991
https://doi.org/10.1016/j.ymgme.2009.06.010
https://doi.org/10.1016/j.ymgme.2009.06.010
Autor:
Gerhard Hammersen, V. Debus, Jonas Denecke, Christian Kranz, Erik Harms, Christoph Jungeblut, Anna Reith, Ulrich Schwarzer, Thorsten Marquardt, Christina Sohlbach, Hans Gerd Kehl, Helfried Gröbe, Anne Erlekotte, Sonja Reichel
Publikováno v:
ResearcherID
The following study describes the discovery of a new inherited metabolic disorder, dolichol kinase (DK1) deficiency. DK1 is responsible for the final step of the de novo biosynthesis of dolichol phosphate. Dolichol phosphate is involved in several gl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dab04499ac570f995279373a9a3a3ebc
https://europepmc.org/articles/PMC1821118/
https://europepmc.org/articles/PMC1821118/
