Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
Ebberink, Merel S., Mooijer, Petra A.W., Gootjes, Jeannette, Koster, Janet, Wanders, Ronald J.A., Waterham, Hans R.
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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Journal Article
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
Ebberink, Merel S, Csanyi, Barbara, Chong, Wui K, Denis, Simone, Sharp, Peter, Mooijer, Petra A W, Dekker, Conny J M, Spooner, Claire, Ngu, Lock H, De Sousa, Carlos, Wanders, Ronald J A, Fietz, Michael J, Clayton, Peter T, Waterham, Hans R, Ferdinandusse, Sacha
Published in Journal of medical genetics (01.09.2010)
Published in Journal of medical genetics (01.09.2010)
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Journal Article
A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents
Raas-Rothschild, Annick, Wanders, Ronald J.A., Mooijer, Petra A.W., Gootjes, Jeannette, Waterham, Hans R., Gutman, Alisa, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Kondo, Naomi, Eshel, Gideon, Espeel, Marc, Roels, Frank, Korman, Stanley H.
Published in American journal of human genetics (01.04.2002)
Published in American journal of human genetics (01.04.2002)
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Journal Article
Galactose Epimerase Deficiency: Expanding the Phenotype
Dias Costa, Filipa, Ferdinandusse, Sacha, Pinto, Carla, Dias, Andrea, Keldermans, Liesbeth, Quelhas, Dulce, Matthijs, Gert, Mooijer, Petra A., Diogo, Luísa, Jaeken, Jaak, Garcia, Paula
Published in JIMD Reports, Volume 37 (01.01.2017)
Published in JIMD Reports, Volume 37 (01.01.2017)
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Book Chapter
Journal Article
Disorders of Peroxisome Biogenesis Due to Mutations in PEX1: Phenotypes and PEX1 Protein Levels
Walter, Claudia, Gootjes, Jeannette, Mooijer, Petra A., Portsteffen, Herma, Klein, Christina, Waterham, Hans R., Barth, Peter G., Epplen, Jörg T., Kunau, Wolf-H., Wanders, Ronald J.A., Dodt, Gabriele
Published in American journal of human genetics (01.07.2001)
Published in American journal of human genetics (01.07.2001)
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Journal Article
A novel cell model to study the function of the adrenoleukodystrophy-related protein
Gueugnon, Fabien, Volodina, Natalia, Taouil, Jaoued Et, Lopez, Tatiana E., Gondcaille, Catherine, Grand, Anabelle Sequeira-Le, Mooijer, Petra A.W., Kemp, Stephan, Wanders, Ronald J.A., Savary, Stéphane
Published in Biochemical and biophysical research communications (03.03.2006)
Published in Biochemical and biophysical research communications (03.03.2006)
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Journal Article
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism
Gootjes, Jeannette, Schmohl, Frank, Mooijer, Petra A.W., Dekker, Conny, Mandel, Hanna, Topcu, Meral, Huemer, Martina, von Schütz, M., Marquardt, Thorsten, Smeitink, Jan A., Waterham, Hans R., Wanders, Ronald J.A.
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Journal Article
Genetic Basis of Peroxisome-Assembly Mutants of Humans, Chinese Hamster Ovary Cells, and Yeast: Identification of a New Complementation Group of Peroxisome-Biogenesis Disorders Apparently Lacking Peroxisomal-Membrane Ghosts
Shimozawa, Nobuyuki, Suzuki, Yasuyuki, Zhang, Zhongyi, Imamura, Atsushi, Kondo, Naomi, Kinoshita, Naohiko, Fujiki, Yukio, Tsukamoto, Toshiro, Osumi, Takashi, Imanaka, Tsuneo, Orii, Tadao, Beemer, Frits, Mooijer, Petra, Dekker, Conny, Wanders, Ronald J.A.
Published in American journal of human genetics (01.12.1998)
Published in American journal of human genetics (01.12.1998)
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Journal Article
Biochemical markers predicting survival in peroxisome biogenesis disorders
Gootjes, Jeannette, Mooijer, Petra A W, Dekker, Conny, Barth, Peter G, Poll-The, Bwee Tien, Waterham, Hans R, Wanders, Ronald J A
Published in Advances in experimental medicine and biology (2003)
Published in Advances in experimental medicine and biology (2003)
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Journal Article
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Perlman, Seth, Martin, Nicole, Brault, Jennifer, Gahl, William A., Alejandro, Mercedes E., Dai, Hongzheng, Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Potocki, Lorraine, Scott, Daryl A., Eng, Christine M., Deardorff, Matthew, Hassey, Kelly, Sullivan, Kathleen, Tan, Queenie K.-G., Beggs, Alan H., Berry, Gerard T., Cooper, Cynthia M., Pallais, J. Carl, Rodan, Lance H., Kelley, Emily G., Morava, Eva, Forghani, Irman, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Tekin, Mustafa, Thorson, Willa, Findley, Laurie C., Krasnewich, Donna M., Manolio, Teri A., Goldrich, Madison P., Draper, David D., Nath, Avi, Pusey, Barbara N., Toro, Camilo, Baker, Eva, Gochuico, Bernadette, Mosbrook-Davis, Deborah, Rossignol, Francis, Adam, Margaret, Amendola, Laura, Cunningham, Michael, Jarvik, Gail P., Jarvik, Jeffrey, Lam, Christina, Raskind, Wendy, Sybert, Virginia, Ashley, Euan A., Coakley, Terra R., Hom, Jason, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, Ruzhnikov, Maura, Tabor, Holly K., Tucker, Brianna M., Zastrow, Diane B., Byrd, William E., Dell’Angelica, Esteban C., Douine, Emilie D., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Parker, Neil H., Sinsheimer, Janet S., Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Pace, Laura, Marth, Gabor, Viskochil, Dave, Bayrak-Toydemir, Pinar, Duncan, Laura, Robertson, Amy K., Solem, Emily, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Wanders, Ronald J.A., Vaz, Frédéric M.
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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Journal Article
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism
Gootjes, Jeannette, Schmohl, Frank, Mooijer, Petra A W, Dekker, Conny, Mandel, Hanna, Topcu, Meral, Huemer, Martina, Von Schütz, M, Marquardt, Thorsten, Smeitink, Jan A, Waterham, Hans R, Wanders, Ronald J A
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Journal Article
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism: MOLECULAR ANALYSIS OF PEROXISOME MOSAICISM PATIENTS
Gootjes, Jeannette, Schmohl, Frank, Mooijer, Petra A.W., Dekker, Conny, Mandel, Hanna, Topcu, Meral, Huemer, Martina, von Schütz, M., Marquardt, Thorsten, Smeitink, Jan A., Waterham, Hans R., Wanders, Ronald J.A.
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Journal Article