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2002
Mark Plasma pipecolic acid is frequently elevated in non-peroxisomal disease
Baas, J. C.M. ; van de Laar, R. ; Dorland, L. ; Duran, M. ; Berger, R. ; Poll-The, B. T. and de Koning, T. J. ^LU (2002) In Journal of Inherited Metabolic Disease 25(8). p.699-701
- Contribution to journal › Article
Mark Glutaric aciduria type III : A distinctive non-disease?
Knerr, I. ; Zschocke, J. ; Trautmann, U. ; Dorland, L. ; De Koning, T. J. ^LU ; Müller, P. ; Christensen, E. ; Trefz, F. K. ; Wündisch, G. F. and Rascher, W. , et al. (2002) In Journal of Inherited Metabolic Disease 25(6). p.483-490
- Contribution to journal › Article
Mark Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency : Outcome of treatment with amino acids
De Koning, T. J. ^LU ; Duran, M. ; Maldergem, L. Van ; Pineda, M. ; Dorland, L. ; Gooskens, R. ; Jaeken, J. and Poll-The, B. T. (2002) In Journal of Inherited Metabolic Disease 25(2). p.119-125
- Contribution to journal › Article
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
2000
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 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
1998
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 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
1978
Mark Isolation and characterization of oligosaccharides from urine of patients with abnormal glycoconjugate metabolism
Chester, Alan ^LU ; Lundblad, A ; Svensson, S and Öckerman, P-A (1978) In Journal of Inherited Metabolic Disease 1(3). p.119-121
- Contribution to journal › Article

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