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Genetic defects in dolichol metabolism

Congenital disorders of glycosylation (CDG) comprise a group of inborn errors of metabolism with abnormal glycosylation of proteins and lipids. Patients with defective protein N-glycosylation are identified in routine metabolic screening via analysis of serum transferrin glycosylation. Defects in th...

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Detalles Bibliográficos
Autores principales:	Buczkowska, Anna, Swiezewska, Ewa, Lefeber, Dirk J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2014
Materias:	Complex Lipids
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281381/ https://www.ncbi.nlm.nih.gov/pubmed/25270028 http://dx.doi.org/10.1007/s10545-014-9760-1

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