Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Patricie Paesold-Burda"'
Autor:
Thierry Hennet, Siegrun Schnabel, Patricie Paesold-Burda, Heinz Troxler, Matthias R. Baumgartner, Peter Kleinert, Charlotte Maag, François Foulquier
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2009, epub ahead of print. ⟨10.1093/hmg/ddp389⟩
Human Molecular Genetics, 2009, epub ahead of print. ⟨10.1093/hmg/ddp389⟩
Human Molecular Genetics, Oxford University Press (OUP), 2009, epub ahead of print. ⟨10.1093/hmg/ddp389⟩
Human Molecular Genetics, 2009, epub ahead of print. ⟨10.1093/hmg/ddp389⟩
International audience; The conserved oligomeric Golgi (COG) complex is a tethering factor composed of eight subunits that is involved in the retrograde transport of intra-Golgi components. Deficient biosynthesis of COG subunits leads to alterations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f780ae702c0f90c3c402548c3f287d6
https://doi.org/10.5167/uzh-25739
https://doi.org/10.5167/uzh-25739
Publikováno v:
Journal of inherited metabolic disease. 30(6)
Summary An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. The aim of this work was to investigate the specificity of the phenomenon and thus we expanded the study to other typ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2721ee85aa345c871c924a6f1bf85cf4
https://pubmed.ncbi.nlm.nih.gov/17994282
https://pubmed.ncbi.nlm.nih.gov/17994282
Congenital disorders of glycosylation (CDGs) are a family of N-linked glycosylation defects associated with severe clinical manifestations. In CDG type-I, deficiency of lipid-linked oligosaccharide assembly leads to the underoccupancy of N-glycosylat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40aa622c855eb0b269acb04e15f8667b