Detection of pulmonary complications in common variable immunodeficiency
Touw, Catharina M. L., Van De Ven, Annick A., De Jong, Pim A., Terheggen-Lagro, Suzanne, Beek, Erik, Sanders, Elisabeth A. M., Van Montfrans, Joris M.
Published in Pediatric allergy and immunology (01.08.2010)
Published in Pediatric allergy and immunology (01.08.2010)
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Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency
Derks, Terry G. J., Touw, Catharina M. L., Ribas, Graziela S., Biancini, Giovana B., Vanzin, Camila S., Negretto, Giovanna, Mescka, Caroline P., Reijngoud, Dirk Jan, Smit, G. Peter A., Wajner, Moacir, Vargas, Carmen R.
Published in Journal of inherited metabolic disease (01.09.2014)
Published in Journal of inherited metabolic disease (01.09.2014)
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Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
Touw, Catharina M L, Smit, G Peter A, de Vries, Maaike, de Klerk, Johannis B C, Bosch, Annet M, Visser, Gepke, Mulder, Margot F, Rubio-Gozalbo, M Estela, Elvers, Bert, Niezen-Koning, Klary E, Wanders, Ronald J A, Waterham, Hans R, Reijngoud, Dirk-Jan, Derks, Terry G J
Published in Orphanet journal of rare diseases (25.05.2012)
Published in Orphanet journal of rare diseases (25.05.2012)
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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.
Published in American journal of human genetics (03.09.2015)
Published in American journal of human genetics (03.09.2015)
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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Biochemical competition makes fatty-acid β-oxidation vulnerable to substrate overload
van Eunen, Karen, Simons, Sereh M J, Gerding, Albert, Bleeker, Aycha, den Besten, Gijs, Touw, Catharina M L, Houten, Sander M, Groen, Bert K, Krab, Klaas, Reijngoud, Dirk-Jan, Bakker, Barbara M
Published in PLoS computational biology (01.08.2013)
Published in PLoS computational biology (01.08.2013)
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Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders
van Eunen, Karen, Volker-Touw, Catharina M L, Gerding, Albert, Bleeker, Aycha, Wolters, Justina C, van Rijt, Willemijn J, Martines, Anne-Claire M F, Niezen-Koning, Klary E, Heiner, Rebecca M, Permentier, Hjalmar, Groen, Albert K, Reijngoud, Dirk-Jan, Derks, Terry G J, Bakker, Barbara M
Published in BMC biology (07.12.2016)
Published in BMC biology (07.12.2016)
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Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review
Durkin, Anna, Albaba, Shadi, Fry, Andrew E., Morton, Jenny E., Douglas, Andrew, Beleza, Ana, Williams, Denise, Volker‐Touw, Catharina M.L., Lynch, Sally A., Canham, Natalie, Clowes, Virginia, Straub, Volker, Lachlan, Katherine, Gibbon, Frances, El Gamal, Mayy, Varghese, Vinod, Parker, Michael J., Newbury‐Ecob, Ruth, Turnpenny, Peter D., Gardham, Alice, Ghali, Neeti, Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
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In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
Touw, Catharina M L, Smit, G Peter A, Niezen-Koning, Klary E, Bosgraaf-de Boer, Conny, Gerding, Albert, Reijngoud, Dirk-Jan, Derks, Terry G J
Published in Orphanet journal of rare diseases (20.03.2013)
Published in Orphanet journal of rare diseases (20.03.2013)
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DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niels, Levy, Michael A., Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Boris, de Villemeur, Thierry B., Volker-Touw, Catharina M.L., Verbeek, Nienke, van der Smagt, Jasper J., Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni B., Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Published in Genetics in medicine (01.08.2023)
Published in Genetics in medicine (01.08.2023)
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Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant
Duvekot, Jantiene C., Baas, Annette F., Volker-Touw, Catharina M.L., Bikker, Hennie, Schroer, Christian, Breur, Johannes M.P.J.
Published in Canadian journal of cardiology (01.11.2021)
Published in Canadian journal of cardiology (01.11.2021)
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Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress
van Rijt, Willemijn J., van der Ende, Rixt M., Volker-Touw, Catharina M.L., van Spronsen, Francjan, Derks, Terry G.J., Heiner-Fokkema, M. Rebecca
Published in Molecular genetics and metabolism (01.08.2019)
Published in Molecular genetics and metabolism (01.08.2019)
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NBEA: Developmental disease gene with early generalized epilepsy phenotypes
Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P. W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P. A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez‐Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette J. V., Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders Blok, Lot, Veenstra‐Knol, Hermine E., Baugh, Evan H., Brilstra, Eva H., Volker‐Touw, Catharina M. L., van Binsbergen, Ellen, Revah‐Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert‐Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.
Published in Annals of neurology (01.11.2018)
Published in Annals of neurology (01.11.2018)
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Biochemical Competition Makes Fatty-Acid [beta]-Oxidation Vulnerable to Substrate Overload: e1003186
Eunen, Karen van, Simons, Sereh MJ, Gerding, Albert, Bleeker, Aycha, Besten, Gijs den, Touw, Catharina ML, Houten, Sander M, Groen, Bert K, Krab, Klaas, Reijngoud, Dirk-Jan, Bakker, Barbara M
Published in PLoS computational biology (01.08.2013)
Published in PLoS computational biology (01.08.2013)
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Journal Article
Biochemical Competition Makes Fatty-Acid beta -Oxidation Vulnerable to Substrate Overload: e1003186
Eunen, Karen van, Simons, Sereh MJ, Gerding, Albert, Bleeker, Aycha, Besten, Gijs den, Touw, Catharina ML, Houten, Sander M, Groen, Bert K, Krab, Klaas, Reijngoud, Dirk-Jan
Published in PLoS computational biology (01.08.2013)
Published in PLoS computational biology (01.08.2013)
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