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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Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11 von van Mil, Saskia W C, van der Woerd, Wendy L, van der Brugge, Gerda, Sturm, Ekkehard, Jansen, Peter L M, Bull, Laura N, van den Berg, Inge E T, Berger, Ruud, Houwen, Roderick H J, Klomp, Leo W J

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The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis von Klomp, Adriana E.M, van de Sluis, Bart, Klomp, Leo W.J, Wijmenga, Cisca

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Cisplatin Rapidly Down-regulates Its Own Influx Transporter hCTR1 in Cultured Human Ovarian Carcinoma Cells von HOLZER, Alison K, KATANO, Kuniyuki, KLOMP, Leo W. J, HOWELL, Stephen B

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The gene product Murr1 restricts HIV-1 replication in resting CD4 + lymphocytes von Nabel, Gary J, Ganesh, Lakshmanan, Burstein, Ezra, Guha-Niyogi, Anuradha, Louder, Mark K, Mascola, John R, Klomp, Leo W. J, Wijmenga, Cisca, Duckett, Colin S

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Characterization of mutations in ATP8B1 associated with hereditary cholestasis von Klomp, Leo W. J., Vargas, Julie C., van Mil, Saskia W. C., Pawlikowska, Ludmila, Strautnieks, Sandra S., van Eijk, Michiel J. T., Juijn, Jenneke A., Pabón‐Peña, Carlos, Smith, Lauren B., DeYoung, Joseph A., Byrne, Jane A., Gombert, Justijn, van der Brugge, Gerda, Berger, Ruud, Jankowska, Irena, Pawlowska, Joanna, Villa, Erica, Knisely, A. S., Thompson, Richard J., Freimer, Nelson B., Houwen, Roderick H. J., Bull, Laura N.

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d-Amino acids in the central nervous system in health and disease von Fuchs, Sabine A., Berger, Ruud, Klomp, Leo W.J., de Koning, Tom J.

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Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1) von Klomp, Adriana E M, Tops, Bastiaan B J, Van Denberg, Inge E T, Berger, Ruud, Klomp, Leo W J

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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome von Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A

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A novel role for XIAP in copper homeostasis through regulation of MURR1 von Burstein, Ezra, Ganesh, Lakshmanan, Dick, Robert D, van De Sluis, Bart, Wilkinson, John C, Klomp, Leo WJ, Wijmenga, Cisca, Brewer, George J, Nabel, Gary J, Duckett, Colin S

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The Copper Chaperone for Superoxide Dismutase von Culotta, Valeria Cizewski, Klomp, Leo W.J., Strain, Jeffrey, Casareno, Ruby Leah B., Krems, Bernhard, Gitlin, Jonathan D.

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Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis von STAPELBROEK, Janneke M, VAN ERPECUM, Karel J, KLOMP, Leo W. J, VENNEMAN, Niels G, SCHWARTZ, Thijs P, VAN BERGE HENEGOUWEN, Gerard P, DEVLIN, John, VAN NIEUWKERK, Carin M. J, KNISELY, A. S, HOUWEN, Roderick H. J

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Interaction of the Copper Chaperone HAH1 with the Wilson Disease Protein Is Essential for Copper Homeostasis von Hamza, Iqbal, Schaefer, Mark, Leo W. J. Klomp, Gitlin, Jonathan D.

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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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The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis von Stapelbroek, Janneke M., Bollen, Casper W., Ploos van Amstel, Johannes K., van Erpecum, Karel J., van Hattum, Jan, van den Berg, Leonard H., Klomp, Leo W.J., Houwen, Roderick H.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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Serine-deficiency syndromes von de Koning, Tom J, Klomp, Leo W 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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Genetics of familial intrahepatic cholestasis syndromes von van Mil, S W C, Houwen, R H J, Klomp, L W J

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Copper-dependent protein–protein interactions studied by yeast two-hybrid analysis von van Dongen, Elisabeth M.W.M., Klomp, Leo W.J., Merkx, Maarten

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