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

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

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

Por Löwik, M. M., Groenen, P. J., Levtchenko, E. N., Monnens, L. A., van den Heuvel, L. P.
Publicado em 2009

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

Por Schirris, T. J. J., Jansen, J., Mihajlovic, M., van den Heuvel, L. P., Masereeuw, R., Russel, F. G. M.
Publicado no 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...

Por Kluijtmans, L A, Boers, G H, Kraus, J P, van den Heuvel, L P, Cruysberg, J R, Trijbels, F J, Blom, H J
Publicado em 1999

Hereditary isolated renal magnesium loss maps to chromosome 11q23.

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

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

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

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

Por 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
Publicado em 1989

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

Por 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
Publicado no Clin Exp Immunol (2015)

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

Por 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
Publicado em 1996

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

Por 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
Publicado em 1998

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

Por 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
Publicado em 2001

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

Por 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.
Publicado em 1996

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

Por 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
Publicado no Clin Exp Immunol (2014)

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

Por 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
Publicado em 1995

Eculizumab in Pediatric Dense Deposit Disease

Por 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.
Publicado no Clin J Am Soc Nephrol (2015)

Bioengineered kidney tubules efficiently excrete uremic toxins

Por 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.
Publicado no 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

Por 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
Publicado no BMJ Open (2017)

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

Por 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
Publicado em 1998

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

Por Wijmenga, C, van den Heuvel, L P, Strengman, E, Luyten, J A, van der Burgt, I J, de Groot, R, Smeets, D F, Draaisma, J M, van Dongen, J J, De Abreu, R A, Pearson, P L, Sandkuijl, L A, Weemaes, C M
Publicado em 1998

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

Por Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J., Smeitink, J. A. M.
Publicado em 2012