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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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Bibliographic Details
Main Authors: Miller, Bradley S., Freeze, Hudson H., Hoffmann, Georg F., Sarafoglou, Kyriakie
Format: Artigo
Language:Inglês
Published: 2011
Subjects:
Online Access: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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