Life with too much polyprenol–polyprenol reductase deficiency

Congenital disorders of glycosylation (CDG) are caused by a dysfunction of glycosylation, an essential step in the manufacturing process of glycoproteins. This paper focuses on a 6-year-old patient with a new type of CDG-I caused by a defect of the steroid 5α reductase type 3 gene (SRD5A3). The clin...

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Main Authors: Gründahl, J.E.H., Guan, Z., Rust, S., Reunert, J., Müller, B., Du Chesne, I., Zerres, K., Rudnik-Schöneborn, S., Ortiz-Brüchle, N., Häusler, M.G., Siedlecka, J., Swiezewska, E., Raetz, C.R.H., Marquardt, T.
Formato: Artigo
Idioma:Inglês
Publicado: 2011
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428379/
https://ncbi.nlm.nih.gov/pubmed/22304929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.12.017
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