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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2018-09-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Classical galactosaemia Infertility Glycan modifier genes
Acesso em linha:	http://link.springer.com/article/10.1186/s13023-018-0906-3
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