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Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)

Information on the hypothalamic pituitary ovarian axis in congenital disorders of glycosylation (CDG) females is scarce. Varying hormonal profiles and degrees of virilization in CDG females suggest a spectrum of yet unidentified mechanisms affected by impaired N-glycosylation. We describe an ALG6D w...

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Detalhes bibliográficos
Main Authors: Miller, Bradley S., Freeze, Hudson H., Hoffmann, Georg F., Sarafoglou, Kyriakie
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3869397/
https://ncbi.nlm.nih.gov/pubmed/21334936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.01.016
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