Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes von de Bie, P, Muller, P, Wijmenga, C, Klomp, L W J

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Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency von Tabatabaie, L, Klomp, L. W. J, Rubio-Gozalbo, M. E, Spaapen, L. J. M, Haagen, A. A. M, Dorland, L, de Koning, T. J

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Farnesoid X receptor activation inhibits inflammation and preserves the intestinal barrier in inflammatory bowel disease von Gadaleta, Raffaella M, van Erpecum, Karel J, Oldenburg, Bas, Willemsen, Ellen C L, Renooij, Willem, Murzilli, Stefania, Klomp, Leo W J, Siersema, Peter D, Schipper, Marguerite E I, Danese, Silvio, Penna, Giuseppe, Laverny, Gilles, Adorini, Luciano, Moschetta, Antonio, Mil, Saskia W C van

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Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics von Tabatabaie, L, de Koning, T.J, Geboers, A.J.J.M, van den Berg, I.E.T, Berger, R, Klomp, L.W.J

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Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency von de Koning, TJ, Klomp, LWJ, van Oppen, ACC, Beemer, FA, Dorland, L, van den Berg, IET, Berger, R

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Genetics of familial intrahepatic cholestasis syndromes von van Mil, S W C, Houwen, R H J, Klomp, L W J

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The copper connection von Linn, F. H. H., Van Erpecum, K. J., Klomp, L. W. J., Houwen, R. H. J.

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Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis von Harris, ZL, Klomp, LW, Gitlin, JD

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Expression of the Ceruloplasmin Gene in the Human Retina and Brain: Implications for a Pathogenic Model in Aceruloplasminemia von Klomp, Leo W. J., Gitlin, Jonathan D.

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Fine-resolution mapping by haplotype evaluation : the examples of PFIC1 and BRIC von BULL, L. N, JUIJN, J. A, ABUKAWA, D, BARTON, D. E, BASS, N. M, BOURKE, B, DRUMM, B, JANKOWSKA, I, LOVISETTO, P, MCQUAID, S, PAWLOWSKA, J, TAZAWA, Y, LIAO, M, VILLA, E, TYGSTRUP, N, BERGER, R, KNISELY, A. S, HOUWEN, R. H. J, FREIMER, N. B, VAN EIJK, M. J. T, SINKE, R. J, STRICKER, N. L, DEYOUNG, J. A, CARLTON, V. E. H, BAHARLOO, S, KLOMP, L. W. J

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A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis von Bull, Laura N, van Eijk, Michiel J.T, Pawlikowska, Ludmila, DeYoung, Joseph A, Juijn, Jenneke A, Liao, Mira, Klomp, Leo W.J, Lomri, Noureddine, Berger, Ruud, Scharschmidt, Bruce R, Knisely, Alexander S, Houwen, Roderick H.J, Freimer, Nelson B

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Biosynthesis of a human gall-bladder mucin von Klomp, L W, de Lely, A J, Strous, G J

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Cloning and analysis of human gastric mucin cDNA reveals two types of conserved cysteine-rich domains von Klomp, L W, Van Rens, L, Strous, G J

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Structure, Expression, and Chromosomal Localization of the Mouse Atox1 Gene von Hamza, Iqbal, Klomp, Leo W.J., Gaedigk, Roger, White, Robert A., Gitlin, Jonathan D.

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Identification of a human gastric mucin precursor: N-linked glycosylation and oligomerization von Klomp, L W, van Rens, L, Strous, G J

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Determining the ERK-regulated phosphoproteome driving KRAS-mutant cancer von Klomp, Jennifer E, Diehl, J Nathaniel, Klomp, Jeffrey A, Edwards, A Cole, Yang, Runying, Morales, Alexis J, Taylor, Khalilah E, Drizyte-Miller, Kristina, Bryant, Kirsten L, Schaefer, Antje, Johnson, Jared L, Huntsman, Emily M, Yaron, Tomer M, Pierobon, Mariaelena, Baldelli, Elisa, Prevatte, Alex W, Barker, Natalie K, Herring, Laura E, Petricoin, 3rd, Emanuel F, Graves, Lee M, Cantley, Lewis C, Cox, Adrienne D, Der, Channing J, Stalnecker, Clint A

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Defining the KRAS- and ERK-dependent transcriptome in KRAS-mutant cancers von Klomp, Jeffrey A, Klomp, Jennifer E, Stalnecker, Clint A, Bryant, Kirsten L, Edwards, A Cole, Drizyte-Miller, Kristina, Hibshman, Priya S, Diehl, J Nathaniel, Lee, Ye S, Morales, Alexis J, Taylor, Khalilah E, Peng, Sen, Tran, Nhan L, Herring, Laura E, Prevatte, Alex W, Barker, Natalie K, Hover, Laura D, Hallin, Jill, Chowdhury, Saikat, Coker, Oluwadara, Lee, Hey Min, Goodwin, Craig M, Gautam, Prson, Olson, Peter, Christensen, James G, Shen, John P, Kopetz, Scott, Graves, Lee M, Lim, Kian-Huat, Wang-Gillam, Andrea, Wennerberg, Krister, Cox, Adrienne D, Der, Channing J

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Raised hepatic bile acid concentrations during pregnancy in mice are associated with reduced farnesoid X receptor function von Milona, Alexandra, Owen, Bryn M., Cobbold, Jeremy F. L., Willemsen, Ellen C. L., Cox, Isobel J., Boudjelal, Mohamed, Cairns, William, Schoonjans, Kristina, Taylor‐Robinson, Simon D., Klomp, Leo W. J., Parker, Malcolm G., White, Roger, van Mil, Saskia W. C., Williamson, Catherine

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l-Serine synthesis in the central nervous system: A review on serine deficiency disorders von Tabatabaie, L., Klomp, L.W., Berger, R., de Koning, T.J.

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Multi-center reproducibility of neurochemical profiles in the human brain at 7T von Bank, B L, Emir, U E, Boer, V O, Asten, J J A, Maas, M C, Wijnen, J P, Kan, H E, Oz, G, Klomp, D W J, Scheenen, T W J

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