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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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Bibliografski detalji
Glavni autori: Miller, Bradley S., Freeze, Hudson H., Hoffmann, Georg F., Sarafoglou, Kyriakie
Format: Artigo
Jezik:Inglês
Izdano: 2011
Teme:
Online pristup: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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