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2007
Mark Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.
Benninga, M. A. ; Lilien, M. ; de Koning, T. J. ^LU ; Duran, M. ; Versteegh, F. G. ; Goldschmeding, R. and Poll-The, B. T. (2007) In Journal of Inherited Metabolic Disease 30(3). p.402-403
- Contribution to journal › Article
2005
Mark Ornithine aminotransferase deficiency : Diagnostic difficulties in neonatal presentation
Cleary, M. A. ; Dorland, L. ; de Koning, T. J. ^LU ; Poll-The, B. T. ; Duran, M. ; Mandell, R. ; Shih, V. E. ; Berger, R. ; Olpin, S. E. and Besley, Guy T.N. (2005) In Journal of Inherited Metabolic Disease 28(5). p.673-679
- Contribution to journal › Article
2004
Mark Glutathione synthetase deficiency associated with antenatal cerebral bleeding
Br̈ggemann, L. W. ; Groenendaal, F. ; Ristoff, E. ; Larsson, A. ; Duran, M. ; van Lier, J. A.C. ; Dorland, L. ; Berger, R. and de Koning, T. J. ^LU (2004) In Journal of Inherited Metabolic Disease 27(2). p.275-276
- Contribution to journal › Article
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 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 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
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 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 Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency
De Koning, T. J. ^LU ; Nikkels, P. G.J. ; Dorland, L. ; Bekhof, J. ; De Schrijver, J. E.A.R. ; Van Hattum, J. ; Van Diggelen, O. P. ; Duran, M. ; Berger, R. and Poll-The, B. T. (2000) In Virchows Archiv 437(1). p.101-105
- Contribution to journal › Article
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

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