FSH isoform pattern in classic galactosemia

Female classic galactosemia patients suffer from primary ovarian insufficiency (POI). The cause for this long-term complication is not fully understood. One of the proposed mechanisms is that hypoglycosylation of complex molecules, a known secondary phenomenon of galactosemia, leads to FSH dysfuncti...

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Autors principals: Gubbels, Cynthia S., Thomas, Chris M. G., Wodzig, Will K. W. H., Olthaar, André J., Jaeken, Jaak, Sweep, Fred C. G. J., Rubio-Gozalbo, M. Estela
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2010
Matèries:
Galactosemia
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3063565/
https://ncbi.nlm.nih.gov/pubmed/20814826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9180-9
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