Immunomodulatory Effects of Chitotriosidase Enzyme

Por Elmonem, Mohamed A., van den Heuvel, Lambertus P., Levtchenko, Elena N.
Publicado no Enzyme Res (2016)

Cystinosis: practical tools for diagnosis and treatment

Por Wilmer, Martijn J., Schoeber, Joost P., van den Heuvel, Lambertus P., Levtchenko, Elena N.
Publicado em 2010

Role of P-Glycoprotein Expression and Function in Cystinotic Renal Proximal Tubular Cells

Por Peeters, Karen, Wilmer, Martijn J., Schoeber, Joost P., Reijnders, Dorien, van den Heuvel, Lambertus P., Masereeuw, Rosalinde, Levtchenko, Elena
Publicado em 2011

Cystinosis: a review

Por Elmonem, Mohamed A., Veys, Koenraad R., Soliman, Neveen A., van Dyck, Maria, van den Heuvel, Lambertus P., Levtchenko, Elena
Publicado no Orphanet J Rare Dis (2016)

Eculizumab treatment efficiently prevents C5 cleavage without C5a generation in vivo

Por Volokhina, Elena B., Bergseth, Grethe, van de Kar, Nicole C. A. J., van den Heuvel, Lambertus P., Mollnes, Tom Eirik
Publicado no Blood (2015)

Interactions of Shiga-like toxin with human peripheral blood monocytes

Por Geelen, Joyce M., van der Velden, Thea J. A. M., van den Heuvel, Lambertus P. W. J., Monnens, Leo A. H.
Publicado em 2007

Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation

Por Knops, Noël, Herman, Jean, van Dyck, Maria, Ramazani, Yasaman, Debbaut, Edward, van Damme‐Lombaerts, Rita, Levtchenko, Elena, van den Heuvel, Lambertus P., Fieuws, Steffen, Kuypers, Dirk
Publicado no Br J Clin Pharmacol (2016)

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients

Por Gorvin, Caroline M., Wilmer, Martijn J., Piret, Sian E., Harding, Brian, van den Heuvel, Lambertus P., Wrong, Oliver, Jat, Parmjit S., Lippiat, Jonathan D., Levtchenko, Elena N., Thakker, Rajesh V.
Publicado em 2013

Optimized Metabolomic Approach to Identify Uremic Solutes in Plasma of Stage 3–4 Chronic Kidney Disease Patients

Por Mutsaers, Henricus A. M., Engelke, Udo F. H., Wilmer, Martijn J. G., Wetzels, Jack F. M., Wevers, Ron A., van den Heuvel, Lambertus P., Hoenderop, Joost G., Masereeuw, Rosalinde
Publicado em 2013

Fecal diagnostics in combination with serology: best test to establish STEC-HUS

Por Wijnsma, Kioa L., van Bommel, Sheila A. M., van der Velden, Thea, Volokhina, Elena, Schreuder, Michiel F., van den Heuvel, Lambertus P., van de Kar, Nicole C. A. J.
Publicado no Pediatr Nephrol (2016)

Uremic Toxins Inhibit Transport by Breast Cancer Resistance Protein and Multidrug Resistance Protein 4 at Clinically Relevant Concentrations

Por Mutsaers, Henricus A. M., van den Heuvel, Lambertus P., Ringens, Lauke H. J., Dankers, Anita C. A., Russel, Frans G. M., Wetzels, Jack F. M., Hoenderop, Joost G., Masereeuw, Rosalinde
Publicado em 2011

Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters

Por Wilmer, Martijn J., Saleem, Moin A., Masereeuw, Rosalinde, Ni, Lan, van der Velden, Thea J., Russel, Frans G., Mathieson, Peter W., Monnens, Leo A., van den Heuvel, Lambertus P., Levtchenko, Elena N.
Publicado em 2009

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

Por Guillard, Mailys, Wada, Yoshinao, Hansikova, Hana, Yuasa, Isao, Vesela, Katerina, Ondruskova, Nina, Kadoya, Machiko, Janssen, Alice, Van den Heuvel, Lambertus P. W. J., Morava, Eva, Zeman, Jiri, Wevers, Ron A., Lefeber, Dirk J.
Publicado em 2011

Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

Por Groenestege, Wouter M. Tiel, Thébault, Stéphanie, van der Wijst, Jenny, van den Berg, Dennis, Janssen, Rob, Tejpar, Sabine, van den Heuvel, Lambertus P., van Cutsem, Eric, Hoenderop, Joost G., Knoers, Nine V., Bindels, René J.
Publicado em 2007

Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction

Por Elmonem, Mohamed A., Khalil, Ramzi, Khodaparast, Ladan, Khodaparast, Laleh, Arcolino, Fanny O., Morgan, Joseph, Pastore, Anna, Tylzanowski, Przemko, Ny, Annelii, Lowe, Martin, de Witte, Peter A., Baelde, Hans J., van den Heuvel, Lambertus P., Levtchenko, Elena
Publicado no Sci Rep (2017)

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

Por Huigsloot, Merei, Nijtmans, Leo G., Szklarczyk, Radek, Baars, Marieke J.H., van den Brand, Mariël A.M., HendriksFranssen, Marthe G.M., van den Heuvel, Lambertus P., Smeitink, Jan A.M., Huynen, Martijn A., Rodenburg, Richard J.T.
Publicado em 2011

Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics

Por Geerdink, Lianne M., Westra, Dineke, van Wijk, Joanna A. E., Dorresteijn, Eiske M., Lilien, Marc R., Davin, Jean-Claude, Kömhoff, Martin, Van Hoeck, Koen, van der Vlugt, Amerins, van den Heuvel, Lambertus P., van de Kar, Nicole C. A. J.
Publicado em 2012

Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration

Por Duvvari, Maheswara R., van de Ven, Johannes P. H., Geerlings, Maartje J., Saksens, Nicole T. M., Bakker, Bjorn, Henkes, Arjen, Neveling, Kornelia, del Rosario, Marisol, Westra, Dineke, van den Heuvel, Lambertus P. W. J., Schick, Tina, Fauser, Sascha, Boon, Camiel J. F., Hoyng, Carel B., de Jong, Eiko K., den Hollander, Anneke I.
Publicado no PLoS One (2016)

Analysis of Rare Variants in the C3 Gene in Patients with Age-Related Macular Degeneration

Por Duvvari, Maheswara R., Paun, Codrut C., Buitendijk, Gabriëlle H. S., Saksens, Nicole T. M., Volokhina, Elena B., Ristau, Tina, Schoenmaker-Koller, Frederieke E., van de Ven, Johannes P. H., Groenewoud, Joannes M. M., van den Heuvel, Lambertus P. W. J., Hofman, Albert, Fauser, Sascha, Uitterlinden, André G., Klaver, Caroline C. W., Hoyng, Carel B., de Jong, Eiko K., den Hollander, Anneke I.
Publicado em 2014

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Por Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A.W., Holleboom, Adriaan G., Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P.H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J.
Publicado no Am J Hum Genet (2016)