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2024
Mark Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Lam, Christina ; Eklund, E.A. ^LU and Morava, E. (2024) In Molecular Genetics and Metabolism 142(4).
- Contribution to journal › Article
2018
Mark Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
Vajro, Pietro ; Zielinska, Katarzyna ^LU ; Ng, Bobby G. ; Maccarana, Marco ^LU ; Bengtson, Per ^LU ; Poeta, Marco ; Mandato, Claudia ; D'Acunto, Elisa ; Freeze, Hudson H. and Eklund, Erik A. ^LU (2018) In Orphanet Journal of Rare Diseases 13(1).
- Contribution to journal › Article
2015
Mark Neurological Aspects of Human Glycosylation Disorders
Freeze, Hudson H. ; Eklund, Erik ^LU ; Ng, Bobby G. and Patterson, Marc C. (2015) In Annual Review of Neuroscience 38. p.105-105
- Contribution to journal › Scientific review
2006
Mark The congenital disorders of glycosylation: a multifaceted group of syndromes.
Eklund, Erik ^LU and Freeze, Hudson H (2006) In NeuroRx 3(2). p.63-254
- Contribution to journal › Article
2000
Mark Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
Schollen, E. ; Dorland, L. ; De Koning, T. J. ^LU ; Van Diggelen, O. P. ; Huijmans, J. G.M. ; Marquardt, T. ; Babovic-Vuksanovic, D. ; Patterson, M. ; Imtiaz, F. and Winchester, B. , et al. (2000) In Human Mutation 16(3). p.247-252
- Contribution to journal › Article

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