Código QR (código de barras bidimensional)

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...

Fuld beskrivelse

Na minha lista:
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
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2018-09-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Classical galactosaemia
Infertility
Glycan modifier genes
Online adgang:http://link.springer.com/article/10.1186/s13023-018-0906-3
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker