Ontology highlight
ABSTRACT:
SUBMITTER: Gubbels CS
PROVIDER: S-EPMC3063565 | biostudies-literature | 2011 Apr
REPOSITORIES: biostudies-literature
Gubbels Cynthia S CS Thomas Chris M G CM Wodzig Will K W H WK Olthaar André J AJ Jaeken Jaak J Sweep Fred C G J FC Rubio-Gozalbo M Estela ME
Journal of inherited metabolic disease 20100903 2
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 dysfunction. An earlier study showed less acidic isoforms of FSH in serum samples of two classic galactosemia patients compared to controls, indicating hypoglycosylation. In this study, FSH isoform patterns of ...[more]