Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

BACKGROUND: Classical Galactosaemia (CG) (OMIM #230400) is a rare inborn error of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Long-term complications persist in treated patients despite dietary galactose restriction with significant varia...

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Библиографические подробности
Опубликовано в: :Orphanet J Rare Dis
Главные авторы: Colhoun, Hugh-Owen, Rubio Gozalbo, Estela M., Bosch, Annet M., Knerr, Ina, Dawson, Charlotte, Brady, Jennifer, Galligan, Marie, Stepien, Karolina, O’Flaherty, Roisin, Catherine Moss, C., Peter Barker, P., Fitzgibbon, Maria, Doran, Peter P., Treacy, Eileen P.
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2018
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6146524/
https://ncbi.nlm.nih.gov/pubmed/30231941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0906-3
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