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A case with rare type of congenital disorder of glycosylation: PGM1-CDG.
Küçükçongar A, Tümer L, Ezgü FS, Kasapkara ÇS, Jaeken J, Matthijs G, Rymen D, Dalgiç B, Bıdecı A, Hasanoğlu A. Küçükçongar A, et al. Among authors: jaeken j. Genet Couns. 2015;26(1):87-90. Genet Couns. 2015. PMID: 26043514 No abstract available.
Skin manifestations in CDG.
Rymen D, Jaeken J. Rymen D, et al. Among authors: jaeken j. J Inherit Metab Dis. 2014 Sep;37(5):699-708. doi: 10.1007/s10545-014-9678-7. Epub 2014 Feb 20. J Inherit Metab Dis. 2014. PMID: 24554337 Review.
From glycosylation to glycosylation diseases.
Jaeken J, Matthijs G. Jaeken J, et al. Biochim Biophys Acta. 2009 Sep;1792(9):823. doi: 10.1016/j.bbadis.2009.08.003. Biochim Biophys Acta. 2009. PMID: 19765533 Free article. No abstract available.
Congenital disorders of glycosylation.
Jaeken J, Matthijs G. Jaeken J, et al. Annu Rev Genomics Hum Genet. 2001;2:129-51. doi: 10.1146/annurev.genom.2.1.129. Annu Rev Genomics Hum Genet. 2001. PMID: 11701646 Review.
SRD5A3-CDG: a patient with a novel mutation.
Kasapkara CS, Tümer L, Ezgü FS, Hasanoğlu A, Race V, Matthijs G, Jaeken J. Kasapkara CS, et al. Among authors: jaeken j. Eur J Paediatr Neurol. 2012 Sep;16(5):554-6. doi: 10.1016/j.ejpn.2011.12.011. Epub 2012 Jan 10. Eur J Paediatr Neurol. 2012. PMID: 22240719
CDG or not CDG.
Freeze HH, Jaeken J, Matthijs G. Freeze HH, et al. Among authors: jaeken j. J Inherit Metab Dis. 2022 May;45(3):383-385. doi: 10.1002/jimd.12498. Epub 2022 Apr 1. J Inherit Metab Dis. 2022. PMID: 35338706 Free PMC article. No abstract available.
442 results