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Results by year

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 14
2016 20
2017 19
2018 15
2019 17
2020 15
2021 16
2022 15
2023 6
2024 2

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434 results

Results by year

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Page 1
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 Free PMC article. 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
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. Among authors: jaeken j. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
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.
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.
Recognizable phenotypes in CDG.
Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E. Ferreira CR, et al. Among authors: jaeken j. J Inherit Metab Dis. 2018 May;41(3):541-553. doi: 10.1007/s10545-018-0156-5. Epub 2018 Apr 13. J Inherit Metab Dis. 2018. PMID: 29654385 Free PMC article. Review.
Platelets and Defective N-Glycosylation.
Mammadova-Bach E, Jaeken J, Gudermann T, Braun A. Mammadova-Bach E, et al. Among authors: jaeken j. Int J Mol Sci. 2020 Aug 6;21(16):5630. doi: 10.3390/ijms21165630. Int J Mol Sci. 2020. PMID: 32781578 Free PMC 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 (CDG): state of the art in 2022.
Francisco R, Brasil S, Poejo J, Jaeken J, Pascoal C, Videira PA, Dos Reis Ferreira V. Francisco R, et al. Among authors: jaeken j. Orphanet J Rare Dis. 2023 Oct 19;18(1):329. doi: 10.1186/s13023-023-02879-z. Orphanet J Rare Dis. 2023. PMID: 37858231 Free PMC article. Review.
434 results