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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 1
1971 2
1972 1
1973 1
1975 1
1976 4
1977 5
1978 3
1979 8
1980 7
1981 4
1982 3
1983 2
1984 6
1985 2
1986 3
1987 4
1988 8
1989 6
1990 6
1991 8
1992 6
1993 11
1994 12
1995 5
1996 12
1997 12
1998 13
1999 12
2000 16
2001 15
2002 6
2003 10
2004 5
2005 7
2006 7
2007 12
2008 18
2009 13
2010 12
2011 11
2012 17
2013 14
2014 13
2015 13
2016 20
2017 19
2018 15
2019 17
2020 14
2021 13
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Article attribute
Article type
Publication date

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410 results
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Page 1
What is new in CDG?
Jaeken J, Péanne R. Jaeken J, et al. J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8. J Inherit Metab Dis. 2017. PMID: 28484880 Review.
Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Péanne R, et al. Among authors: jaeken j. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079546 Free article. Review.
The challenge of CDG diagnosis.
Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, Dos Reis Ferreira V, Morava E, Jaeken J. Francisco R, et al. Among authors: jaeken j. Mol Genet Metab. 2019 Jan;126(1):1-5. doi: 10.1016/j.ymgme.2018.11.003. Epub 2018 Nov 9. Mol Genet Metab. 2019. PMID: 30454869 Review.
Congenital disorders of glycosylation: Still "hot" in 2020.
Ondruskova N, Cechova A, Hansikova H, Honzik T, Jaeken J. Ondruskova N, et al. Among authors: jaeken j. Biochim Biophys Acta Gen Subj. 2021 Jan;1865(1):129751. doi: 10.1016/j.bbagen.2020.129751. Epub 2020 Sep 28. Biochim Biophys Acta Gen Subj. 2021. PMID: 32991969 Review.
CDG Therapies: From Bench to Bedside.
Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA, Morava E, Jaeken J, Dos Reis Ferreira V. Brasil S, et al. Among authors: jaeken j. Int J Mol Sci. 2018 Apr 27;19(5):1304. doi: 10.3390/ijms19051304. Int J Mol Sci. 2018. PMID: 29702557 Free PMC article. Review.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: jaeken j. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Review.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: jaeken j. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Blommaert E, Péanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G. Blommaert E, et al. Among authors: jaeken j. Proc Natl Acad Sci U S A. 2019 May 14;116(20):9865-9870. doi: 10.1073/pnas.1817815116. Epub 2019 Apr 29. Proc Natl Acad Sci U S A. 2019. PMID: 31036665 Free PMC article.
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Among authors: jaeken j. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.
410 results
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