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2009
Mark Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics
Tabatabaie, L. ; De Koning, T. J. ^LU ; Geboers, A. J.J.M. ; Van Den Berg, I. E.T. ; Berger, R. and Klomp, L. W.J. (2009) In Human Mutation 30(5). p.749-756
- Contribution to journal › Article
2004
Mark Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency
Koning, T. J.De ^LU ; Klomp, L. W.J. ; Oppen, A. C.C.Van ; Beemer, Prof F.A. ; Dorland, L. ; Berg, I. E.T.Van Den and Berger, Prof R. (2004) In Lancet 364(9452). p.2221-2222
- Contribution to journal › Letter
2003
Mark Serinedeficiëntie
De Koning, T. J. ^LU ; Klomp, L. W J ; Van Den Berg, I. E T ; Dorland, L. and Berger, R. (2003) In Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 28(6). p.325-328
- Contribution to journal › Article
2001
Mark Assisterad befruktning. Uppföljning av barn som nått skolåldern
Stjernqvist, Karin ^LU ; Köster, M and Berg, I (2001) In SoS-rapport (Artikelnummer 2001-123-37)
- Book/Report › Report
1998
Mark Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome
De Koning, T. J. ^LU ; Toet, M. ; Dorland, L. ; De Vries, L. S. ; Van Den Berg, I. E.T. ; Duran, M. and Poll-The, B. T. (1998) In Journal of Inherited Metabolic Disease 21(6). p.681-682
- Contribution to journal › Article
Mark A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
De Koning, T. J. ^LU ; Dorland, L. ; Van Diggelen, O. P. ; Boonman, A. M.C. ; De Jong, G. J. ; Van Noort, W. L. ; De Schryver, Jear ; Duran, M. ; Van Den Berg, I. E.T. and Gerwig, G. J. , et al. (1998) In Biochemical and Biophysical Research Communications 245(1). p.38-42
- Contribution to journal › Article