A randomised placebo-controlled, double-blind phase II study to explore the safety, efficacy, and pharmacokinetics of sonlicromanol in children with genetically confirmed mitochondrial disease and motor symptoms ("KHENERGYC")
Smeitink, Jan, van Maanen, Rob, de Boer, Lonneke, Ruiterkamp, Gerrit, Renkema, Herma
Published in BMC neurology (27.04.2022)
Published in BMC neurology (27.04.2022)
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The role of clinical response to treatment in determining pathogenicity of genomic variants
Shen, Joseph J, Wortmann, Saskia B, de Boer, Lonneke, Kluijtmans, Leo A J, Huigen, Marleen C D G, Koch, Johannes, Ross, Stephanie, Collins, Christin D, van der Lee, Robin, van Karnebeek, Clara D M, Hegde, Madhuri R
Published in Genetics in medicine (01.03.2021)
Published in Genetics in medicine (01.03.2021)
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Journal Article
Cognitive functioning and mental health in children with a primary mitochondrial disease
van de Loo, Kim F. E, Custers, José A. E, de Boer, Lonneke, van Lieshout, Marloes, de Vries, Maaike C, Janssen, Mirian C. H, Verhaak, Christianne M
Published in Orphanet journal of rare diseases (01.10.2022)
Published in Orphanet journal of rare diseases (01.10.2022)
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Journal Article
Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study
Rijt, Willemijn J., Ferdinandusse, Sacha, Giannopoulos, Panagiotis, Ruiter, Jos P. N., Boer, Lonneke, Bosch, Annet M., Huidekoper, Hidde H., Rubio‐Gozalbo, M. Estela, Visser, Gepke, Williams, Monique, Wanders, Ronald J. A., Derks, Terry G. J.
Published in Journal of inherited metabolic disease (01.09.2019)
Published in Journal of inherited metabolic disease (01.09.2019)
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Journal Article
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation
de Haas, Paola, de Jonge, Marien I, Koenen, Hans J P M, Joosten, Ben, Janssen, Mirian C H, de Boer, Lonneke, Hendriks, Wiljan J A J, Lefeber, Dirk J, Cambi, Alessandra
Published in Frontiers in immunology (06.05.2022)
Published in Frontiers in immunology (06.05.2022)
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Journal Article
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F. H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A. J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E. H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L. M., Willemsen, Michèl A., Lefeber, Dirk J., Karnebeek, Clara D. M. van
Published in Frontiers in neurology (07.06.2021)
Published in Frontiers in neurology (07.06.2021)
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Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
Veenvliet, Annemarijne R.J., Garrelfs, Mark R., Udink ten Cate, Floris E.A., Ferdinandusse, Sacha, Denis, Simone, Fuchs, Sabine A., Schwantje, Marit, Geurtzen, Rosa, van Wegberg, Annemiek M.J., Huigen, Marleen C.D.G., Kluijtmans, Leo A.J., Wanders, Ronald J.A., Derks, Terry G.J., de Boer, Lonneke, Houtkooper, Riekelt H., de Vries, Maaike C., van Karnebeek, Clara D.M.
Published in Molecular genetics and metabolism reports (01.06.2022)
Published in Molecular genetics and metabolism reports (01.06.2022)
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Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
de Brouwer, Arjan P.M., Abou Jamra, Rami, Körtel, Nadine, Soyris, Clara, Polla, Daniel L., Safra, Modi, Zisso, Avia, Powell, Christopher A., Rebelo-Guiomar, Pedro, Dinges, Nadja, Morin, Violeta, Stock, Michael, Hussain, Mureed, Shahzad, Mohsin, Riazuddin, Saima, Ahmed, Zubair M., Pfundt, Rolph, Schwarz, Franziska, de Boer, Lonneke, Reis, André, Grozeva, Detilina, Raymond, F. Lucy, Riazuddin, Sheikh, Koolen, David A., Minczuk, Michal, Roignant, Jean-Yves, van Bokhoven, Hans, Schwartz, Schraga
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects
de Boer, Lonneke, Cambi, Alessandra, Verhagen, Lilly M., de Haas, Paola, van Karnebeek, Clara D.M., Blau, Nenad, Ferreira, Carlos R.
Published in Molecular genetics and metabolism (01.05.2023)
Published in Molecular genetics and metabolism (01.05.2023)
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Journal Article
Mutations in TBR1 gene leads to cortical malformations and intellectual disability
Vegas, Nancy, Cavallin, Mara, Kleefstra, Tjitske, de Boer, Lonneke, Philbert, Marion, Maillard, Camille, Boddaert, Nathalie, Munnich, Arnold, Hubert, Laurence, Bery, Amandine, Besmond, Claude, Bahi-Buisson, Nadia
Published in European journal of medical genetics (01.12.2018)
Published in European journal of medical genetics (01.12.2018)
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Journal Article
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study
den Hollander, Bibiche, Brands, Marion M, de Boer, Lonneke, Haaxma, Charlotte A, Lengyel, Anna, van Essen, Peter, Peters, Gera, Kwast, Hanneke J T, Klein, Willemijn M, Coene, Karlien L M, Lefeber, Dirk J, van Karnebeek, Clara D M
Published in Journal of inherited metabolic disease (01.09.2023)
Published in Journal of inherited metabolic disease (01.09.2023)
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Journal Article
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
Schwantje, Marit, Fuchs, Sabine A., Boer, Lonneke, Bosch, Annet M., Cuppen, Inge, Dekkers, Eugenie, Derks, Terry G. J., Ferdinandusse, Sacha, Ijlst, Lodewijk, Houtkooper, Riekelt H., Maase, Rose, Pol, W. Ludo, Vries, Maaike C., Verschoof‐Puite, Rendelien K., Wanders, Ronald J. A., Williams, Monique, Wijburg, Frits, Visser, Gepke
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1
Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, Carvalho, Daniel Rocha, Rizzo, Isabela Maria Pinto Oliveira, Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, Scherpenzeel, Monique, Janssen, Mirian, Boer, Lonneke, Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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Journal Article
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
Ferreira, Elise A., Veenvliet, Annemarijne R.J., Engelke, Udo F.H., Kluijtmans, Leo A.J., Huigen, Marleen C.D.G., Hoegen, Brechtje, de Boer, Lonneke, de Vries, Maaike C., van Bon, Bregje W., Leenders, Erika, Cornelissen, Elisabeth A.M., Haaxma, Charlotte A., Schieving, Jolanda H., Rubio-Gozalbo, M. Estela, Körver-Keularts, Irene M.L.W., Marten, Lara M., Diegmann, Susann, Mourmans, Jeroen, Rennings, Alexander J.M., van Karnebeek, Clara D.M., Rodenburg, Richard J., Coene, Karlien L.M.
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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Journal Article
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity
Mendes, Marisa I, Smith, Desirée EC, Pop, Ana, Lennertz, Pascal, Fernandez Ojeda, Matilde R, Kanhai, Warsha A, Dooren, Silvy JM, Anikster, Yair, Barić, Ivo, Boelen, Caroline, Campistol, Jaime, Boer, Lonneke, Kariminejad, Ariana, Kayserili, Hulya, Roubertie, Agathe, Verbruggen, Krijn T, Vianey‐Saban, Christine, Williams, Monique, Salomons, Gajja S
Published in Human mutation (01.05.2017)
Published in Human mutation (01.05.2017)
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Journal Article
Using PRPP‐Assessment for measuring change in everyday activities by home‐based videos: An exploratory case series study in children with multiple disabilities
Rothuizen‐Lindenschot, Marieke, Graff, Maud J. L., Boer, Lonneke, Groot, Imelda J. M., Nijhuis‐van der Sanden, Maria W. G., Steultjens, Esther M. J., Koene, Saskia
Published in Australian occupational therapy journal (01.12.2023)
Published in Australian occupational therapy journal (01.12.2023)
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Journal Article
Radboud Centre for Mitochondrial Medicine Pediatric MRI score
Wong, Sheila Suet-Na, Goraj, Bozena, Fung, Cheuk-Wing, Vister, Jeroen, de Boer, Lonneke, Koene, Saskia, Smeitink, Jan
Published in Mitochondrion (01.01.2017)
Published in Mitochondrion (01.01.2017)
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Journal Article
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity: HUMAN MUTATION
Mendes, Marisa I, Smith, Desirée EC, Pop, Ana, Lennertz, Pascal, Fernandez Ojeda, Matilde R, Kanhai, Warsha A, van Dooren, Silvy JM, Anikster, Yair, Barić, Ivo, Boelen, Caroline, Campistol, Jaime, de Boer, Lonneke, Kariminejad, Ariana, Kayserili, Hulya, Roubertie, Agathe, Verbruggen, Krijn T, Vianey-Saban, Christine, Williams, Monique, Salomons, Gajja S
Published in Human mutation (01.05.2017)
Published in Human mutation (01.05.2017)
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Journal Article
International Paediatric Mitochondrial Disease Scale
Koene, Saskia, Hendriks, Jan C. M., Dirks, Ilse, de Boer, Lonneke, de Vries, Maaike C., Janssen, Mirian C. H., Smuts, Izelle, Fung, Cheuk-Wing, Wong, Virginia C. N., de Coo, I. René F. M., Vill, Katharina, Stendel, Claudia, Klopstock, Thomas, Falk, Marni J., McCormick, Elizabeth M., McFarland, Robert, de Groot, Imelda J. M., Smeitink, Jan A. M.
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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