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Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
Abu Bakar N, Lefeber DJ, van Scherpenzeel M. Abu Bakar N, et al. J Inherit Metab Dis. 2018 May;41(3):499-513. doi: 10.1007/s10545-018-0144-9. Epub 2018 Mar 1. J Inherit Metab Dis. 2018. PMID: 29497882 Free PMC article. Review.
Integration of glycomics with genomics has resulted in the elucidation of previously unknown disorders of glycosylation, namely CCDC115-CDG, TMEM199-CDG, ATP6AP1-CDG, MAN1B1-CDG, and PGM1-CDG. This review provides an introduction into protein glycosylation and prese …
Integration of glycomics with genomics has resulted in the elucidation of previously unknown disorders of glycosylation, namely CCDC115-CDG, …
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.
Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D. Marques-da-Silva D, et al. J Inherit Metab Dis. 2017 Mar;40(2):195-207. doi: 10.1007/s10545-016-0012-4. Epub 2017 Jan 20. J Inherit Metab Dis. 2017. PMID: 28108845 Review.
We distinguish two main groups: on the one hand, the CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG, and on the other hand, the CDG types associated with liver disease but not as a striking, uniq …
We distinguish two main groups: on the one hand, the CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199