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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha: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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