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2017
Mark Amino acid synthesis deficiencies
de Koning, T. J. ^LU (2017) In Journal of Inherited Metabolic Disease 40(4). p.609-620
- Contribution to journal › Scientific review
2016
Mark Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
Bengtson, Per ^LU ; Ng, Bobby G ; Jaeken, Jaak ; Matthijs, Gert ; Freeze, Hudson H and Eklund, Erik ^LU (2016) In Journal of Inherited Metabolic Disease 39(1). p.107-114
- Contribution to journal › Article
2013
Mark Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes
Burke, Derek G. ; Rahim, Ahad A. ; Waddington, Simon N. ; Karlsson, Stefan ^LU ; Berglin-Enquist, Ida ^LU ; Bhatia, Kailash ; Mehta, Atul ; Vellodi, Ashok and Heales, Simon (2013) In Journal of Inherited Metabolic Disease 36(5). p.869-872
- Contribution to journal › Article
Mark Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria
Veiga-Da-Cunha, Maria ; Verhoeven-Duif, Nanda M. ; De Koning, Tom J. ^LU ; Duran, Marinus ; Dorland, Bert and Van Schaftingen, Emile (2013) In Journal of Inherited Metabolic Disease 36(6). p.961-966
- Contribution to journal › Article
Mark An update on serine deficiency disorders
Van Der Crabben, S. N. ; Verhoeven-Duif, N. M. ; Brilstra, E. H. ; Van Maldergem, L. ; Coskun, T. ; Rubio-Gozalbo, E. ; Berger, R. and De Koning, T. J. ^LU (2013) In Journal of Inherited Metabolic Disease 36(4). p.613-619
- Contribution to journal › Article
2011
Mark Complex III staining in blue native polyacrylamide gels
Smet, Joel ; De Paepe, Boel ; Seneca, Sara ; Lissens, Willy ; Kotarsky, Heike ^LU ; De Meirleir, Linda ; Fellman, Vineta ^LU and Van Coster, Rudy (2011) In Journal of Inherited Metabolic Disease 34(3). p.741-747
- Contribution to journal › Article
Mark Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation : A systematic review
Van Der Linden, Marleen H. ; Kruyt, Moyo C. ; Sakkers, Ralph J.B. ; De Koning, Tom J. ^LU ; Öner, F. Cumhur and Castelein, René M. (2011) In Journal of Inherited Metabolic Disease 34(3). p.657-669
- Contribution to journal › Scientific review
Mark Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency
Tabatabaie, L. ; Klomp, L. W.J. ; Rubio-Gozalbo, M. E. ; Spaapen, L. J.M. ; Haagen, A. A.M. ; Dorland, L. and De Koning, T. J. ^LU (2011) In Journal of Inherited Metabolic Disease 34(1). p.181-184
- Contribution to journal › Article
2010
Mark Whole body composition analysis by the BodPod air-displacement plethysmography method in children with Phenylketonuria shows a higher body fat percentage
Albersen, Monique ; Bonthuis, Marjolein ; De Roos, Nicole M. ; Van Den Hurk, Dorine A.M. ; Carbasius Weber, Ems ; Hendriks, Margriet M.W.B. ; De Sain-Van Der Velden, Monique G.M. ; De Koning, Tom J. ^LU and Visser, Gepke (2010) In Journal of Inherited Metabolic Disease 33(SUPPL. 3).
- Contribution to journal › Article
Mark Fatal cerebral edema associated with serine deficiency in CSF
Keularts, Irene M.L.W. ; Leroy, Piet L.J.M. ; Rubio-Gozalbo, Estela M. ; Spaapen, Leo J.M. ; Weber, Biene ; Dorland, Bert ; De Koning, Tom J. ^LU and Verhoeven-Duif, Nanda M. (2010) In Journal of Inherited Metabolic Disease 33(SUPPL. 3). p.181-185
- Contribution to journal › Article

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