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2016
Mark Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
Bengtson, Per ^LU ; Ng, Bobby G ; Jaeken, Jaak ; Matthijs, Gert ; Freeze, Hudson H and Eklund, Erik ^LU (2016) In Journal of Inherited Metabolic Disease 39(1). p.107-114
- Contribution to journal › Article
Mark ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng, Bobby G ; Shiryaev, Sergey A ; Rymen, Daisy ; Eklund, Erik ^LU ; Raymond, Kimiyo ; Kircher, Martin ; Abdenur, Jose E ; Alehan, Fusun ; Midro, Alina T and Bamshad, Michael J , et al. (2016) In Human Mutation
- Contribution to journal › Article
2014
Mark Serine synthesis disorders
Jaeken, Jaak and de Koning, Tom ^LU (2014) p.123-131
- Chapter in Book/Report/Conference proceeding › Book chapter
2006
Mark Disorders of GABA, glycine, serine, and proline
Jaeken, Jaak and De Koning, Tom J. ^LU (2006) p.43-48
- Chapter in Book/Report/Conference proceeding › Book chapter
2000
Mark Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
Klomp, Leo W.J. ; De Koning, Tom J. ^LU ; Malingré, Helga E.M. ; Van Beurden, Ellen A.C.M. ; Brink, Miny ; Opdam, Frans L. ; Duran, Marinus ; Jaeken, Jaak ; Pineda, Merce and Van Maldergem, Lionel , et al. (2000) In American Journal of Human Genetics 67(6). p.1389-1399
- Contribution to journal › Article