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

Abstract 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 significa...

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Autors principals:	Hugh-Owen Colhoun, Estela M. Rubio Gozalbo, Annet M. Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O’Flaherty, C. Catherine Moss, P. Peter Barker, Maria Fitzgibbon, Peter P. Doran, Eileen P. Treacy
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2018-09-01
Col·lecció:	Orphanet Journal of Rare Diseases
Matèries:	Classical galactosaemia Infertility Glycan modifier genes
Accés en línia:	http://link.springer.com/article/10.1186/s13023-018-0906-3
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