Tom J de Koning

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2001
Mark Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
Spaapen, L. J.M. ; Bakker, J. A. ; Velter, C. ; Loots, W. ; Rubio-Gonzalbo, M. E. ; Forget, P. P. ; Dorland, L. ; De Koning, T. J. ^LU ; Poll-The, B. T. and Ploos Van Amstel, H. K. , et al. (2001) In Journal of Inherited Metabolic Disease 24(3). p.352-358
- Contribution to journal › Article
Mark Isolated glycerol kinase deficiency and fanconi anemia [1]
Sjarif, D. R. ; Révész, T. ; de Koning, T. J. ^LU ; Duran, M. ; Beemer, F. A. and Poll-The, B. T. (2001) In American Journal of Medical Genetics 99(2). p.159-160
- Contribution to journal › Letter
2000
Mark CDG type 1B : Kliniek, diagnostiek en behandeling
De Koning, T. J. ^LU (2000) In Tijdschrift voor Kindergeneeskunde 68(SUPPL. 1). p.51-51
- Contribution to journal › Article
Mark Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
De Koning, T. J. ^LU ; Jaeken, J. ; Pineda, M. ; Van Maldergem, L. ; Poll-The, B. T. and Van der Knaap, M. S. (2000) In Neuropediatrics 31(6). p.287-292
- Contribution to journal › Article
Mark Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation : An updated nomenclature for CDG
Aebi, M. ; Helenius, A. ; Schenk, B. ; Barone, R. ; Fiumara, A. ; Berger, E. G. ; Hennet, T. ; Imbach, T. ; Stutz, A. ^LU and Bjursell, C. , et al. (2000) In Glycobiology 16. p.669-671
- Contribution to journal › Letter
Mark Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome
Poll-The, B. T. ; Frenkel, J. ; Houten, S. M. ; Kuis, W. ; Duran, M. ; De Koning, T. J. ^LU ; Dorland, L. ; De Barse, M. M.J. ; Romeijn, G. J. and Wanders, R. J.A. , et al. (2000) In Journal of Inherited Metabolic Disease 23(4). p.363-366
- Contribution to journal › Article
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
Mark Hyperketonaemia in glycerol kinase deficiency
Sjarif, D. R. ; Dorland, L. ; Sperl, W. ; De Koning, T. J. ^LU ; Beemer, F. A. ; Poll-The, B. T. and Duran, M. (2000) In Journal of Inherited Metabolic Disease 23(7). p.760-764
- Contribution to journal › Article
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
Mark Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency
De Koning, Tom J. ^LU ; Duran, Marinus ; Dorland, Lambertus ; Jakobs, Cornelis ; Wevers, Ron A. ; Berger, Ruud and Poll-The, Bwee Tien (2000) In European Journal of Pediatrics 159(12). p.939-940
- Contribution to journal › Letter