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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
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 De lange termijn effecten van enzymbehandeling bij de ziekte van Gaucher type 1 en 3
Bosman, D. K. ; Van Weeley, S. ; Reversz, T. ; De Koning, T. ^LU ; Aerts, J. J.M. and Bakker, H. D. (2000) In Tijdschrift voor Kindergeneeskunde 68(SUPPL. 1). p.13-13
- Contribution to journal › Article
1999
Mark Continuing education in neurometabolic disorders - Serine deficiency disorders
De Koning, T. J. ^LU ; Poll-The, B. T. and Jaeken, J. (1999) In Neuropediatrics 30(1). p.1-4
- Contribution to journal › Scientific review
Mark Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy : Editorial
De Koning, T. J. ^LU ; Dorland, L. and Van Berge Henegouwen, G. P. (1999) In Journal of Hepatology 31(3). p.557-560
- Contribution to journal › Debate/Note/Editorial
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. and Bjursell, C. , et al. (1999) In Glycoconjugate Journal 16(11). p.669-671
- Contribution to journal › Letter
Mark Pontocerebellar hypoplasia associated with respiratory-chain defects
De Koning, T. J. ^LU ; De Vries, L. S. ; Groenendaal, F. ; Ruitenbeek, W. ; Jansen, G. H. ; Poll-The, B. T. and Barth, P. G. (1999) In Neuropediatrics 30(2). p.93-95
- Contribution to journal › Article
Mark Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
Houten, Sander M. ; Kuis, Wietse ; Duran, Marinus ; De Koning, Tom J. ^LU ; Van Royen-Kerkhof, Annet ; Romeijn, Gerrit J. ; Frenkel, Joost ; Dorland, Lambertus ; De Barse, Martina M.J. and Huijbers, Wim A.R. , et al. (1999) In Nature Genetics 22(2). p.175-177
- Contribution to journal › Article
1998
Mark Beenmergtransplantatie bij X-linked adrenoleukodystrofie
Roeleveld-Versteegh, A. B.C. ; De Koning, T. J. ^LU ; Wulffraat, N. M. ; Kuis, W. ; Jansen, M. ; Scheewe, J. H. and Poll, B. T. (1998) In Tijdschrift voor Kindergeneeskunde 66(SUPPL. 1). p.60-61
- Contribution to journal › Article

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