Some practical aspects of providing a diagnostic service for respiratory chain defectsJANSSEN, A. J. M; SMEITINK, J. A. M; VAN DEN HEUVEL, L. P et al.Annals of clinical biochemistry. 2003, Vol 40, pp 3-8, issn 0004-5632, 6 p., 1Article

Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)VAN DEN HEUVEL, L. P; ASSINK, K; WILLEMSEN, M et al.Human genetics. 2002, Vol 111, Num 6, pp 544-547, issn 0340-6717, 4 p.Article

Proteomics and neuromuscular diseases: theoretical concept and first resultsVAN DEN HEUVEL, L. P; FARHOUD, M. H; WEVERS, R. A et al.Annals of clinical biochemistry. 2003, Vol 40, pp 9-15, issn 0004-5632, 7 p., 1Article

Biotechnological challenges of bioartificial kidney engineeringJANSEN, J; FEDECOSTANTE, M; WILMER, M. J et al.Biotechnology advances. 2014, Vol 32, Num 7, pp 1317-1327, issn 0734-9750, 11 p.Article

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis―a reviewLÖWIK, M. M; GROENEN, P. J; LEVTCHENKO, E. N et al.European journal of pediatrics. 2009, Vol 168, Num 11, pp 1291-1304, issn 0340-6199, 14 p.Article

Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and PIPEP) for combined deficiencies in the oxidative phosphorylation systemCOENEN, M. J. H; SMEITINK, J. A. M; SMEETS, R et al.Journal of inherited metabolic disease. 2005, Vol 28, Num 6, pp 1091-1097, issn 0141-8955, 7 p.Article

Additional findings in Galloway-Mowat syndromeKUCHARCZUK, K; DE GIORGI, A. M; GOLDEN, J et al.Pediatric nephrology (Berlin, West). 2000, Vol 14, Num 5, pp 406-409, issn 0931-041XConference Paper

Identification of post-transplant anti-α5(IV) collagen alloantibodies in X-linked Alport syndromeDEHAN, P; VAN DEN HEUVEL, L. P. W. J; SMEETS, H. J. M et al.Nephrology, dialysis, transplantation (Print). 1996, Vol 11, Num 10, pp 1983-1988, issn 0931-0509Article

Fatal hypertensive crisis as presentation of mitochondrial complex I deficiencyLOHMEIER, K; DISTELMAIER, F; VAN DEN HEUVEL, L. P et al.Neuropediatrics. 2007, Vol 38, Num 3, pp 148-150, issn 0174-304X, 3 p.Article

Mitochondrial t^RNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosisLÖWIK, M. M; HOL, F. A; STEENBERGEN, E. J et al.Nephrology, dialysis, transplantation (Print). 2005, Vol 20, Num 2, pp 336-341, issn 0931-0509, 6 p.Article

Inhibition of DNA methylation in malignant MOLT F4 lymphoblasts by 6-mercaptopurineLAMBOOY, L. H. J; LEEGWATER, P. A. J; VAN DEN HEUVEL, L. P et al.Clinical chemistry (Baltimore, Md.). 1998, Vol 44, Num 3, pp 556-559, issn 0009-9147Article

WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosisLÖWIK, M. M; LEVTCHENKO, E. N; MONNENS, L. A. H et al.Clinical nephrology. 2003, Vol 59, Num 2, pp 143-146, issn 0301-0430, 4 p.Article

Effect of plasma from patients with idiopathic nephrotic syndrome on proteoglycan synthesis by human and rat glomerular cellsGIRARDIN, E. P; BIRMELE, B; BENADOR, N et al.Pediatric research. 1998, Vol 43, Num 4, pp 489-495, issn 0031-3998, 1Article

Autosomal recessive inheritance of von Willebrand factor-cleaving protease deficiencyTE LOO, D. M. W. M; LEVTCHENKO, E; FURLAN, M et al.Pediatric nephrology (Berlin, West). 2000, Vol 14, Num 8-9, pp 762-765, issn 0931-041XArticle

MR Spectroscopy and Serial Magnetic Resonance Imaging in a Patient with Mitochondrial Cystic Leukoencephalopathy due to Complex I Deficiency and NDUFV1 Mutations and Mild Clinical CourseZAFEIRIOU, D. I; RODENBURG, R. J. T; SCHEFFER, H et al.Neuropediatrics. 2008, Vol 39, Num 3, pp 172-175, issn 0174-304X, 4 p.Article

Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiencyNIERS, L. E. M; SMEITINK, J. A. M; TRIJBELS, J. M. F et al.Prenatal diagnosis. 2001, Vol 21, Num 10, pp 871-880, issn 0197-3851Article

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex ITRIEPELS, R. H; VAN DEN HEUVEL, L. P; TRIJBELS, J. M. F et al.Annals of neurology. 1999, Vol 45, Num 6, pp 787-790, issn 0364-5134Article

Mitochondrial dysfunction in a patient with joubert syndromeMORAVA, E; DINOPOULOS, A; KROES, H. Y et al.Neuropediatrics. 2005, Vol 36, Num 3, pp 214-217, issn 0174-304X, 4 p.Article

Infantile presentation of the mtDNA A3243G tRNA^Leu(UUR) mutationOKHUIJSEN-KROES, E. J; TRIJBELS, J. M. F; SENGERS, R. C. A et al.Neuropediatrics. 2001, Vol 32, Num 4, pp 183-190, issn 0174-304XArticle

A COL4A3 gene mutation and post-transplant anti-α3(IV) collagen alloantibodies in Alport syndromeKALLURI, R; VAN DEN HEUVEL, L. P; SMEETS, H. J. M et al.Kidney international. 1995, Vol 47, Num 4, pp 1199-1204, issn 0085-2538Conference Paper

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathyJONCKHEERE, A. I; HOGEVEEN, M; KAPUSTA, L et al.Journal of medical genetics. 2008, Vol 45, Num 3, pp 129-133, issn 0022-2593, 5 p.Article

Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruptionVAN STRAATEN, H. L. M; VAN TINTELEN, J. P; TRIJBELS, J. M. F et al.Neuropediatrics. 2005, Vol 36, Num 3, pp 193-199, issn 0174-304X, 7 p.Article

A second common mutation in the methylenetetrahydrofolate reductase gene : An additional risk factor for neural-tube defects?VAN DER PUT, N. M. J; GABREËLS, F; STEVENS, E. M. B et al.American journal of human genetics. 1998, Vol 62, Num 5, pp 1044-1051, issn 0002-9297Article

Reduction of anionic sites in the glomerular basement membrane by heparanase does not lead to proteinuria. CommentaryMORITA, H; YOSHIMURA, A; LENSEN, J. F et al.Kidney international. 2008, Vol 73, Num 3, issn 0085-2538, 247-248, 278-287 [12 p.]Article

Conditionally immortalized human glomerular endothelial cells expressing fenestrations in response to VEGFSATCHELL, S. C; TASMAN, C. H; SINGH, A et al.Kidney international. 2006, Vol 69, Num 9, pp 1633-1640, issn 0085-2538, 8 p.Article