Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1

by Balasubramaniam, S., Choy, Y. S., Talib, A., Norsiah, M. D., van den Heuvel, L. P., Rodenburg, R. J.
Published 2011

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis—a review

by Löwik, M. M., Groenen, P. J., Levtchenko, E. N., Monnens, L. A., van den Heuvel, L. P.
Published 2009

Mild intracellular acidification by dexamethasone attenuates mitochondrial dysfunction in a human inflammatory proximal tubule epithelial cell model

by Schirris, T. J. J., Jansen, J., Mihajlovic, M., van den Heuvel, L. P., Masereeuw, R., Russel, F. G. M.
Published in Sci Rep (2017)

The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to...

by Kluijtmans, L A, Boers, G H, Kraus, J P, van den Heuvel, L P, Cruysberg, J R, Trijbels, F J, Blom, H J
Published 1999

Hereditary isolated renal magnesium loss maps to chromosome 11q23.

by Meij, I C, Saar, K, van den Heuvel, L P, Nuernberg, G, Vollmer, M, Hildebrandt, F, Reis, A, Monnens, L A, Knoers, N V
Published 1999

DBH gene variants that cause low plasma dopamine ß hydroxylase with or without a severe orthostatic syndrome

by Deinum, J, Steenbergen-Spanj..., G, Jansen, M, Boomsma, F, Lenders, J, van Ittersum, F J, Huck, N, van den Heuvel, L P, Wevers, R
Published 2004

Isolation and partial characterization of heparan sulphate proteoglycan from the human glomerular basement membrane.

by van den Heuvel, L P, van den Born, J, van de Velden, T J, Veerkamp, J H, Monnens, L A, Schroder, C H, Berden, J H
Published 1989

Complement activation patterns in atypical haemolytic uraemic syndrome during acute phase and in remission

by Volokhina, E B, Westra, D, van der Velden, T J A M, van de Kar, N C A J, Mollnes, T E, van den Heuvel, L P
Published in Clin Exp Immunol (2015)

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

by Kluijtmans, L A, Boers, G H, Stevens, E M, Renier, W O, Kraus, J P, Trijbels, F J, van den Heuvel, L P, Blom, H J
Published 1996

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

by van der Put, N M, Gabreëls, F, Stevens, E M, Smeitink, J A, Trijbels, F J, Eskes, T K, van den Heuvel, L P, Blom, H J
Published 1998

Genotype‐phenotype correlations of low‐frequency variants in the complement system in renal disease and age‐related macular degeneration

by Geerlings, M.J., Volokhina, E.B., de Jong, E.K., van de Kar, N., Pauper, M., Hoyng, C.B., van den Heuvel, L.P., den Hollander, A.I.
Published in Clin Genet (2018)

Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1

by Hiel, J, Weemaes, C, van Engelen, B G M, Smeets, D, Ligtenberg, M, van der Burgt, I, van den Heuvel, L P W J, Cerosaletti, K, Gabreels, F, Concannon, P
Published 2001

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

by Kluijtmans, L. A., van den Heuvel, L. P., Boers, G. H., Frosst, P., Stevens, E. M., van Oost, B. A., den Heijer, M., Trijbels, F. J., Rozen, R., Blom, H. J.
Published 1996

A novel method for direct measurement of complement convertases activity in human serum

by Blom, A M, Volokhina, E B, Fransson, V, Strömberg, P, Berghard, L, Viktorelius, M, Mollnes, T E, López-Trascasa, M, van den Heuvel, L P, Goodship, T H, Marchbank, K J, Okroj, M
Published in Clin Exp Immunol (2014)

Proteoglycan production by human glomerular visceral epithelial cells and mesangial cells in vitro.

by van Det, N F, van den Born, J, Tamsma, J T, Verhagen, N A, van den Heuvel, L P, Berden, J H, Bruijn, J A, Daha, M R, van der Woude, F J
Published 1995

Heme as Possible Contributing Factor in the Evolvement of Shiga-Toxin Escherichia coli Induced Hemolytic-Uremic Syndrome

by Wijnsma, Kioa L., Veissi, Susan T., de Wijs, Sem, van der Velden, Thea, Volokhina, Elena B., Wagener, Frank A. D. T. G., van de Kar, Nicole. C. A. J., van den Heuvel, L. P.
Published in Front Immunol (2020)

Eculizumab in Pediatric Dense Deposit Disease

by Oosterveld, Michiel J.S., Garrelfs, Mark R., Hoppe, Bernd, Florquin, Sandrine, Roelofs, Joris J.T.H., van den Heuvel, L.P., Amann, Kerstin, Davin, Jean-Claude, Bouts, Antonia H.M., Schriemer, Pietrik J., Groothoff, Jaap W.
Published in Clin J Am Soc Nephrol (2015)

Bioengineered kidney tubules efficiently excrete uremic toxins

by Jansen, J., Fedecostante, M., Wilmer, M. J., Peters, J. G., Kreuser, U. M., van den Broek, P. H., Mensink, R. A., Boltje, T. J., Stamatialis, D., Wetzels, J. F., van den Heuvel, L. P., Hoenderop, J. G., Masereeuw, R.
Published in Sci Rep (2016)

REducing STEroids in Relapsing Nephrotic syndrome: the RESTERN study— protocol of a national, double-blind, randomised, placebo-controlled, non-inferiority intervention study

by Schijvens, A M, Dorresteijn, E M, Roeleveld, N, ter Heine, R, van Wijk, J A E, Bouts, A H M, Keijzer-Veen, M G, van de Kar, N C A J, van den Heuvel, L P W J, Schreuder, M F
Published in BMJ Open (2017)

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

by Vargas-Poussou, R, Feldmann, D, Vollmer, M, Konrad, M, Kelly, L, van den Heuvel, L P, Tebourbi, L, Brandis, M, Karolyi, L, Hebert, S C, Lemmink, H H, Deschênes, G, Hildebrandt, F, Seyberth, H W, Guay-Woodford, L M, Knoers, N V, Antignac, C
Published 1998