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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A. Barone R, et al. Among authors: matthijs g. J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30. J Neurol. 2015. PMID: 25355454
Congenital disorders of glycosylation.
Jaeken J, Matthijs G. Jaeken J, et al. Among authors: matthijs g. 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: matthijs g. 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
COG5-CDG with a Mild Neurohepatic Presentation.
Fung CW, Matthijs G, Sturiale L, Garozzo D, Wong KY, Wong R, Wong V, Jaeken J. Fung CW, et al. Among authors: matthijs g. JIMD Rep. 2012;3:67-70. doi: 10.1007/8904_2011_61. Epub 2011 Sep 22. JIMD Rep. 2012. PMID: 23430875 Free PMC article.
On the nomenclature of congenital disorders of glycosylation (CDG).
Jaeken J, Hennet T, Freeze HH, Matthijs G. Jaeken J, et al. Among authors: matthijs g. J Inherit Metab Dis. 2008 Dec;31(6):669-72. doi: 10.1007/s10545-008-0983-x. Epub 2008 Oct 24. J Inherit Metab Dis. 2008. PMID: 18949576 Free article.
Carbohydrate deficient glycoprotein (CDG) syndrome type I.
Jaeken J, Matthijs G, Barone R, Carchon H. Jaeken J, et al. Among authors: matthijs g. J Med Genet. 1997 Jan;34(1):73-6. doi: 10.1136/jmg.34.1.73. J Med Genet. 1997. PMID: 9032653 Free PMC article. No abstract available.
350 results