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1998
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
Mark Peroxisomal disorders
Poll-The, Bwee Tien ; De Koning, Tom J. ^LU ; Dorland, Lambertus and Duran, Marinus (1998) In Neuroscience Research Communications 22(2). p.63-71
- Contribution to journal › Scientific review
Mark Alterations of hepatic peroxisomes in tyrosinaemia type I : Return to fetal type?
Kerckaert, I. ; De Koning, T. J. ^LU ; Poll-The, B. T. and Roels, F. (1998) In Journal of Inherited Metabolic Disease 21(3). p.186-190
- Contribution to journal › Article
Mark Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency
De Koning, Tom J. ^LU ; Duran, Marinus ; Dorland, Lambertus ; Gooskens, Rob ; Van Schaftingen, Emile ; Jacken, Jaak ; Blau, Nenad ; Berger, Ruud and Poll-The, Bwee Tien (1998) In Annals of Neurology 44(2). p.261-265
- Contribution to journal › Article
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
1997
Mark Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
Jaeken, J. ; Artigas, J. ; Barone, R. ; Fiumara, A. ; De Koning, T. J. ^LU ; Poll-The, B. T. ; De Rijk-Van Andel, J. F. ; Hoffmann, G. F. ^LU ; Assmann, B. and Mayatepek, E. , et al. (1997) In Journal of Inherited Metabolic Disease 20(3). p.447-449
- Contribution to journal › Article
Mark Arteriovenous malformation of the vein of Galen in three neonates : Emphasis on associated early ischaemic brain damage
De Koning, T. J. ^LU ; Goosketis, R. ; Veenhoven, R. ; Meijboom, E. J. ; Jansen, G. H. ; Lasjaunias, P. and De Vries, L. S. (1997) In European Journal of Pediatrics 156(3). p.228-229
- Contribution to journal › Article
1996
Mark Fat as compared to glucose improves mitochondrial performance in a disorder of the respiratory chain (complex i deficiency)
de Meer, K. ; Jeneson, J. A.L. ; de Koning, T. J. ^LU ; Poll, B. T. and Berger, R. (1996) In Journal of Pediatric Gastroenterology and Nutrition 22(4).
- Contribution to journal › Article
Mark Congenitale microcefalie en milde maternale 3-methylglutaconacidurie
De Koning, T. J. ^LU ; Duran, M. ; Dorland, L. ; Berger, R. and Poll, B. T. (1996) In Tijdschrift voor Kindergeneeskunde 64(SUPPL. 1). p.51-52
- Contribution to journal › Article
Mark Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring [2]
De Koning, T. J. ^LU ; Duran, M. ; Dorland, L. ; Berger, R. and Poll-The, B. T. (1996) In The Lancet 348(9031). p.887-888
- Contribution to journal › Letter

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