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2. Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets

Author

Ott, Peter, Sandahl, Thomas, Ala, Aftab, Cassiman, David, Couchonnal-Bedoya, Eduardo, Cury, Rubens Gisbert, Czlonkowska, Anna, Denk, Gerald, D’Inca, Renata, de Assis Aquino Gondim, Francisco, Moore, Joanna, Poujois, Aurelia, Twardowschy, Carlos Alexandre, Weiss, Karl Heinz, Zuin, Massimo, Kamlin, C.Omar F., and Schilsky, Michael L.

Published
2024
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3. Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study

Author

Wang, Bruce, Ventura, Paolo, Takase, Kei-ichiro, Thapar, Manish, Cassiman, David, Kubisch, Ilja, Liu, Shangbin, Sweetser, Marianne T, and Balwani, Manisha

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Clinical Trials and Supportive Activities, Peripheral Neuropathy, Neurosciences, Chronic Pain, Digestive Diseases, Hematology, Neurodegenerative, Clinical Research, Pain Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Cost of Illness, Hemin, Humans, Pain, Porphobilinogen, Porphobilinogen Synthase, Porphyria, Acute Intermittent, Porphyrias, Hepatic, Quality of Life, Acute hepatic porphyria, Givosiran, Disease burden, Porphyria attack, Chronic symptoms, Quality of life, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

Background: Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme. Resultant overproduction of the neurotoxic intermediates δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) leads to disabling acute neurovisceral attacks and progressive neuropathy. We evaluated the AHP disease burden in patients aged ≥ 12 years in a post hoc analysis of the Phase 3, randomized, double-blind, placebo-controlled ENVISION trial of givosiran (NCT03338816), an RNA interference (RNAi) therapeutic that targets the enzyme ALAS1 to decrease ALA and PBG production. We analyzed baseline AHP severity via chronic symptoms between attacks, comorbidities, concomitant medications, hemin-associated complications, and quality of life (QOL) and evaluated givosiran (2.5 mg/kg monthly) in patients with and without prior hemin prophylaxis on number and severity of attacks and pain scores during and between attacks. Results: Participants (placebo, n = 46; givosiran, n = 48) included patients with low and high annualized attack rates (AARs; range 0–46). At baseline, patients reported chronic symptoms (52%), including nausea, fatigue, and pain; comorbidities, including neuropathy (38%) and psychiatric disorders (47%); concomitant medications, including chronic opioids (29%); hemin-associated complications (eg, iron overload); and poor QOL (low SF-12 and EuroQol visual analog scale scores). A linear relationship between time since diagnosis and AAR with placebo suggested worsening of disease over time without effective treatment. Givosiran reduced the number and severity of attacks, days with worst pain scores above baseline, and opioid use versus placebo. Conclusions: Patients with AHP, regardless of annualized attack rates, have considerable disease burden that may partly be alleviated with givosiran.

Published
2022

4. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Author

Ferdinandusse, Sacha, McWalter, Kirsty, Te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos PN, van Lint, Alida EM, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Undiagnosed Diseases Network, Waisfisz, Quinten, Zwijnenburg, Petra JG, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine HC, Wanders, Ronald JA, Waterham, Hans R, Cassiman, David, and Vaz, Frédéric M

Subjects
Undiagnosed Diseases Network, Humans, Spastic Paraplegia, Hereditary, Ethers, Aldehyde Oxidoreductases, Lipids, Phenotype, Neurosciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Neurological, Genetics & Heredity, Clinical Sciences
Abstract

PurposeIn this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu).MethodsFollowing next-generation sequencing and clinical phenotyping, functional characterization was performed in patients' fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics.ResultsAll patients had spastic paraparesis and bilateral congenital/juvenile cataracts, in most combined with speech and gross motor developmental delay and truncal hypotonia. FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients' fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.ConclusionHeterozygous de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency and a diametrically opposed biochemical phenotype. Our findings show that for patients with spastic paraparesis and bilateral cataracts, FAR1 should be considered as a candidate gene and added to gene panels for hereditary spastic paraplegia, cerebral palsy, and juvenile cataracts.

Published
2021

6. Tracer metabolomics reveals the role of aldose reductase in glycosylation

Author

Radenkovic, Silvia, Ligezka, Anna N., Mokashi, Sneha S., Driesen, Karen, Dukes-Rimsky, Lynn, Preston, Graeme, Owuocha, Luckio F., Sabbagh, Leila, Mousa, Jehan, Lam, Christina, Edmondson, Andrew, Larson, Austin, Schultz, Matthew, Vermeersch, Pieter, Cassiman, David, Witters, Peter, Beamer, Lesa J., Kozicz, Tamas, Flanagan-Steet, Heather, Ghesquière, Bart, and Morava, Eva

Published
2023
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7. Disorders of Bile Acid Synthesis

Author

Vaz, Frédéric M., Cassiman, David, Ferdinandusse, Sacha, Blau, Nenad, editor, Dionisi Vici, Carlo, editor, Ferreira, Carlos R., editor, Vianey-Saban, Christine, editor, and van Karnebeek, Clara D. M., editor

Published
2022
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8. Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial

Author

To, Uyen, Patel, Amar, Hettiarachchi, Daksshi, Giorgini, Alessia, Monico, Sara, Litwin, Tomasz, Piechal, Agnieszka, Skowronska, Marta, Lachaux, Alain, Belmalih, Abdelouahed, Boogers, Alexandra, Mohr, Isabelle, Langel, Andrea, Freitas, Christian, Barbosa, Egberto Reis, Sandahl, Thomas D, Gerdes, Lisbet, Obadia, Alexandre, Rahli, Djamila, Cosgrove, Jeremy, Schilsky, Michael L, Czlonkowska, Anna, Zuin, Massimo, Cassiman, David, Twardowschy, Carlos, Poujois, Aurelia, Gondim, Francisco de Assis A, Denk, Gerald, Cury, Rubens G, Ott, Peter, Moore, Joanna, Ala, Aftab, D'Inca, Renata, Couchonnal-Bedoya, Eduardo, D'Hollander, Koenraad, Dubois, Nicolas, Kamlin, C Omar F, and Weiss, Karl Heinz

Published
2022
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10. PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation

Author

Madsen, Maria Stahl, Broekema, Marjoleine F., Madsen, Martin Rønn, Koppen, Arjen, Borgman, Anouska, Gräwe, Cathrin, Thomsen, Elisabeth G. K., Westland, Denise, Kranendonk, Mariette E. G., Koerkamp, Marian Groot, Hamers, Nicole, Bonvin, Alexandre M. J. J., Pittol, José M. Ramos, Natarajan, Kedar Nath, Kersten, Sander, Holstege, Frank C. P., Monajemi, Houshang, van Mil, Saskia W. C., Vermeulen, Michiel, Kragelund, Birthe B., Cassiman, David, Mandrup, Susanne, and Kalkhoven, Eric

Published
2022
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11. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

Author

Tromp, Tycho R., Hartgers, Merel L., Hovingh, G. Kees, Vallejo-Vaz, Antonio J., Ray, Kausik K., Soran, Handrean, Freiberger, Tomas, Bertolini, Stefano A., Harada-Shiba, Mariko, Pang, Jing, Watts, Gerald F., Greber-Platzer, Susanne, Mäser, Martin, Stulnig, Thomas M., Ebenbichler, Christoph F., Bin Thani, Khalid, Cassiman, David, Descamps, Olivier S., Rymen, Daisy, Witters, Peter, Santos, Raul D., Brunham, Liam R., Francis, Gordon A., Genest, Jacques, Hegele, Robert A., Kennedy, Brooke A., Ruel, Isabelle, Sherman, Mark H., Jiang, Long, Wang, Luya, Reiner, Željko, Blaha, Vladimir, Ceska, Richard, Dvorakova, Jana, Dlouhy, Lubomir, Horak, Pavel, Soska, Vladimir, Tichy, Lukas, Urbanek, Robin, Vaverkova, Helena, Vrablik, Michal, Zemek, Stanislav, Zlatohlavek, Lukas, Emil, Sameh, Naguib, Tarek, Reda, Ashraf, Béliard, Sophie, Bruckert, Eric, Gallo, Antonio, Elisaf, Moses S., Kolovou, Genovefa, Cohen, Hofit, Durst, Ronen, Dann, Eldad J., Elis, Avishay, Hussein, Osama, Leitersdorf, Eran, Schurr, Daniel, Setia, Nitika, Verma, Ishwar C., Alareedh, Mohammed D., Al-Khnifsawi, Mutaz, Abdalsahib Al-Zamili, Ali F., Rhadi, Sabah H., Shaghee, Foaad K., Arca, Marcello, Averna, Maurizio, Bartuli, Andrea, Bucci, Marco, Buonuomo, Paola S., Calabrò, Paolo, Calandra, Sebastiano, Casula, Manuela, Catapano, Alberico L., Cefalù, Angelo B., Cicero, Arrigo F.G., D'Addato, Sergio, D'Erasmo, Laura, Di Costanzo, Alessia, Fasano, Tommaso, Gazzotti, Marta, Giammanco, Antonina, Iannuzzo, Gabriella, Ibba, Anastasia, Negri, Emanuele A., Pasta, Andrea, Pavanello, Chiara, Pisciotta, Livia, Rabacchi, Claudio, Ripoli, Carlo, Sampietro, Tiziana, Sbrana, Francesco, Sileo, Fulvio, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Zenti, Maria G., Hori, Mika, Ayesh, Mahmoud H., Azar, Sami T., Bitar, Fadi F., Fahed, Akl C., Moubarak, Elie M., Nemer, Georges, Nawawi, Hapizah M., Madriz, Ramón, Mehta, Roopa, Cupido, Arjen J., Defesche, Joep C., Reijman, M. Doortje, Roeters-van Lennep, Jeanine E., Stroes, Erik S.G., Wiegman, Albert, Zuurbier, Linda, Al-Waili, Khalid, Sadiq, Fouzia, Chlebus, Krzysztof, Bourbon, Mafalda, Gaspar, Isabel M., Lalic, Katarina S., Ezhov, Marat V., Susekov, Andrey V., Groselj, Urh, Charng, Min-Ji, Khovidhunkit, Weerapan, Aktan, Melih, Altunkeser, Bulent B., Demircioglu, Sinan, Kose, Melis, Gokce, Cumali, Ilhan, Osman, Kayikcioglu, Meral, Kaynar, Leyla G., Kuku, Irfan, Kurtoglu, Erdal, Okutan, Harika, Ozcebe, Osman I., Pekkolay, Zafer, Sag, Saim, Salcioglu, Osman Z., Temizhan, Ahmet, Yenercag, Mustafa, Yilmaz, Mehmet, Yilmaz Yasar, Hamiyet, Mitchenko, Olena, Lyons, Alexander R.M., Stevens, Christophe A.T., Brothers, Julie A., Hudgins, Lisa C., Nguyen, Christina, Alieva, Rano, Shek, Aleksandr, Do, Doan-Loi, Kim, Ngoc-Thanh, Le, Hong-An, Le, Thanh-Tung, Nguyen, Mai-Ngoc T., Truong, Thanh-Huong, Blom, Dirk J., Raal, Frederick J., Cuchel, Marina, Tromp, Tycho R, Hartgers, Merel L, Hovingh, G Kees, Vallejo-Vaz, Antonio J, Ray, Kausik K, Bertolini, Stefano, Blom, Dirk J, and Raal, Frederick J

Published
2022
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15. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Author

Li, Dong, Strong, Alanna, Shen, Kaitlyn M., Cassiman, David, Van Dyck, Maria, Linhares, Natalia Duarte, Valadares, Eugenia Ribeiro, Wang, Tiancheng, Pena, Sergio D. J., Jaeken, Jaak, Vergano, Samantha, Zackai, Elaine, Hing, Anne, Chow, Penny, Ganguly, Arupa, Scholz, Tasja, Bierhals, Tatjana, Philipp, Deindl, Hakonarson, Hakon, and Bhoj, Elizabeth

Published
2021
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16. Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.

Author

Derks, Britt, Kumar, Varsha Shashi, Yadnik, Sai, Panis, Bianca, Bosch, Annet M., Cassiman, David, Janssen, Mirian C. H., Schuhmann, Teresa, Rubio‐Gozalbo, M. Estela, and Jansma, Bernadette M.

Abstract

Patients with classic galactosemia (CG), an inborn error of galactose metabolism, suffer from impairments in cognition, including language processing. Potential causes are atypical brain oscillations. Recent electroencephalogram (EEG) showed differences in the P300 event‐related‐potential (ERP) and alterations in the alpha/theta‐range during speech planning. This study investigated whether transcranial alternating current stimulation (tACS) at theta‐frequency compared to sham can cause a normalization of the ERP post stimulation and improves language performance. Eleven CG patients and fourteen healthy controls participated in two tACS‐sessions (theta 6.5 Hz/sham). They were engaged in an active language task, describing animated scenes at three moments, that is, pre/during/post stimulation. Pre and post stimulation, behavior (naming accuracy, voice‐onset‐times; VOT) and mean‐amplitudes of ERP were compared, by means of a P300 time‐window analysis and cluster‐based‐permutation testing during speech planning. The results showed that theta stimulation, not sham, significantly reduced naming error‐percentage in patients, not in controls. Theta did not systematically speed up naming beyond a general learning effect, which was larger for the patients. The EEG analysis revealed a significant pre‐post stimulation effect (P300/late positivity), in patients and during theta stimulation only. In conclusion, theta‐tACS improved accuracy in language performance in CG patients compared to controls and altered the P300 and late positive ERP‐amplitude, suggesting a lasting effect on neural oscillation and behavior. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Tacrolimus Drug Exposure Level and Smoking Are Modifiable Risk Factors for Early De Novo Malignancy After Liver Transplantation for Alcohol-Related Liver Disease

Author

Vanlerberghe, Benedict T. K., primary, van Malenstein, Hannah, additional, Sainz-Barriga, Mauricio, additional, Jochmans, Ina, additional, Cassiman, David, additional, Monbaliu, Diethard, additional, van der Merwe, Schalk, additional, Pirenne, Jacques, additional, Nevens, Frederik, additional, and Verbeek, Jef, additional

Published
2024
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20. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Author

Panis, Bianca, primary, Vos, E. Naomi, additional, Barić, Ivo, additional, Bosch, Annet M., additional, Brouwers, Martijn C. G. J., additional, Burlina, Alberto, additional, Cassiman, David, additional, Coman, David J., additional, Couce, María L., additional, Das, Anibh M., additional, Demirbas, Didem, additional, Empain, Aurélie, additional, Gautschi, Matthias, additional, Grafakou, Olga, additional, Grunewald, Stephanie, additional, Kingma, Sandra D. K., additional, Knerr, Ina, additional, Leão-Teles, Elisa, additional, Möslinger, Dorothea, additional, Murphy, Elaine, additional, Õunap, Katrin, additional, Pané, Adriana, additional, Paci, Sabrina, additional, Parini, Rossella, additional, Rivera, Isabel A., additional, Scholl-Bürgi, Sabine, additional, Schwartz, Ida V. D., additional, Sdogou, Triantafyllia, additional, Shakerdi, Loai A., additional, Skouma, Anastasia, additional, Stepien, Karolina M., additional, Treacy, Eileen P., additional, Waisbren, Susan, additional, Berry, Gerard T., additional, and Rubio-Gozalbo, M. Estela, additional

Published
2024
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23. Aberrant N-glycosylation in pathogenic variants of adenosine deaminase 2 underlying human ADA2 deficiency

Author

Ehlers, Lisa, primary, Hombrouck, Anneleen, additional, Wouters, Marjon, additional, Pillay, Bethany, additional, Delafontaine, Selket, additional, Bucciol, Giorgia, additional, Baggio, Marco, additional, Dzhus, Mariia, additional, Jacquemyn, Maarten, additional, De Somer, Lien, additional, Schrijvers, Rik, additional, Vanderschueren, Steven, additional, Cassiman, David, additional, Kirchner, Marieluise, additional, Mertins, Philipp, additional, Kallinich, Tilmann, additional, Daelemans, Dirk, additional, Agostinis, Patrizia, additional, Moens, Leen, additional, and Meyts, Isabelle, additional

Published
2023
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27. Correction: The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL

Author

Kampen, Kim R., Sulima, Sergey O., Verbelen, Benno, Girardi, Tiziana, Vereecke, Stijn, Fancello, Laura, Rinaldi, Gianmarco, Verbeeck, Jelle, Op de Beeck, Joyce, Uyttebroeck, Anne, Meijerink, Jules P. P., Moorman, Anthony V., Harrison, Christine J., Spincemaille, Pieter, Cools, Jan, Cassiman, David, Fendt, Sarah-Maria, Vermeersch, Pieter, and De Keersmaecker, Kim

Published
2019
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29. Evidence for an alternative fatty acid desaturation pathway increasing cancer plasticity

Author

Vriens, Kim, Christen, Stefan, Parik, Sweta, Broekaert, Dorien, Yoshinaga, Kazuaki, Talebi, Ali, Dehairs, Jonas, Escalona-Noguero, Carmen, Schmieder, Roberta, Cornfield, Thomas, Charlton, Catriona, Romero-Pérez, Laura, Rossi, Matteo, Rinaldi, Gianmarco, Orth, Martin F., Boon, Ruben, Kerstens, Axelle, Kwan, Suet Ying, Faubert, Brandon, Méndez-Lucas, Andrés, Kopitz, Charlotte C., Chen, Ting, Fernandez-Garcia, Juan, Duarte, João A. G., Schmitz, Arndt A., Steigemann, Patrick, Najimi, Mustapha, Hägebarth, Andrea, Van Ginderachter, Jo A., Sokal, Etienne, Gotoh, Naohiro, Wong, Kwok-Kin, Verfaillie, Catherine, Derua, Rita, Munck, Sebastian, Yuneva, Mariia, Beretta, Laura, DeBerardinis, Ralph J., Swinnen, Johannes V., Hodson, Leanne, Cassiman, David, Verslype, Chris, Christian, Sven, Grünewald, Sylvia, Grünewald, Thomas G. P., and Fendt, Sarah-Maria

Published
2019
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30. Distinct immunometabolic signatures in circulating immune cells define disease outcomes in acute-on-chronic liver failure

Author

de Azevedo, Rita Furtado Feio, primary, Boesch, Markus, additional, Radenkovic, Silvia, additional, Wallays, Marie, additional, Van Melkebeke, Lukas, additional, Boeckx, Bram, additional, Philips, Gino, additional, Smets, Lena, additional, Laleman, Wim, additional, Meersseman, Philippe, additional, Wilmer, Alexander, additional, Cassiman, David, additional, Van Malenstein, Hannah, additional, Clària, Joan, additional, Nevens, Frederik, additional, Verbeek, Jef, additional, Moreau, Richard, additional, Arroyo, Vicente, additional, Lambrechts, Dieter, additional, Ghesquière, Bart, additional, Korf, Hannelie, additional, and van der Merwe, Schalk, additional

Published
2023
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31. Sequential BAVENO VI plus dedicated spleen stiffness measurement or a novel spleen-centered algorithm significantly enlarges non-invasive ruling out of high risk varices: results from an international derivation-validation cohort study

Author

Vanderschueren, Emma, primary, Armandi, Angelo, additional, Kwanten, Wilhelmus, additional, Vonghia, Luisa, additional, Werner, Merle Marie, additional, Merizian, Talal, additional, Semmler, Georg, additional, Reiberger, Thomas, additional, Vanwolleghem, Thomas, additional, Cassiman, David, additional, Francque, Sven, additional, Schattenberg, Jörn, additional, and Laleman, Wim, additional

Published
2023
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33. Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series

Author

Willandt, Barbara, Langendonk, Janneke G., Biermann, Katharina, Meersseman, Wouter, D’Heygere, François, George, Christophe, Verslype, Chris, Monbaliu, Diethard, Cassiman, David, Morava, Eva, editor, Baumgartner, Matthias, editor, Patterson, Marc, editor, Rahman, Shamima, editor, Zschocke, Johannes, editor, and Peters, Verena, editor

Published
2016
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35. Amino acid levels determine metabolism and CYP450 function of hepatocytes and hepatoma cell lines

Author

Boon, Ruben, Kumar, Manoj, Tricot, Tine, Elia, Ilaria, Ordovas, Laura, Jacobs, Frank, One, Jennifer, De Smedt, Jonathan, Eelen, Guy, Bird, Matthew, Roelandt, Philip, Doglioni, Ginevra, Vriens, Kim, Rossi, Matteo, Vazquez, Marta Aguirre, Vanwelden, Thomas, Chesnais, François, El Taghdouini, Adil, Najimi, Mustapha, Sokal, Etienne, Cassiman, David, Snoeys, Jan, Monshouwer, Mario, Hu, Wei-Shou, Lange, Christian, Carmeliet, Peter, Fendt, Sarah-Maria, and Verfaillie, Catherine M.

Published
2020
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36. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Author

van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M., Gissen, Paul, Goyens, Philippe J., McKiernan, Patrick J., Wilcox, Gisela, Morris, Andrew A. M., Jameson, Elisabeth A., Huijbregts, Stephan C. J., and van Spronsen, Francjan J.

Published
2019
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38. Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

Author

Brunham, Liam R., Kang, Martin H., Van Karnebeek, Clara, Sadananda, Singh N., Collins, Jennifer A., Zhang, Lin-Hua, Sayson, Bryan, Miao, Fudan, Stockler, Sylvia, Frohlich, Jiri, Cassiman, David, Rabkin, Simon W., Hayden, Michael R., Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, Series editor, Gibson, K Michael, Editor-in-chief, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2015
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40. Data from Repurposing the Antidepressant Sertraline as SHMT Inhibitor to Suppress Serine/Glycine Synthesis–Addicted Breast Tumor Growth

Author

Geeraerts, Shauni Lien, primary, Kampen, Kim Rosalie, primary, Rinaldi, Gianmarco, primary, Gupta, Purvi, primary, Planque, Mélanie, primary, Louros, Nikolaos, primary, Heylen, Elien, primary, De Cremer, Kaat, primary, De Brucker, Katrijn, primary, Vereecke, Stijn, primary, Verbelen, Benno, primary, Vermeersch, Pieter, primary, Schymkowitz, Joost, primary, Rousseau, Frederic, primary, Cassiman, David, primary, Fendt, Sarah-Maria, primary, Voet, Arnout, primary, Cammue, Bruno P.A., primary, Thevissen, Karin, primary, and De Keersmaecker, Kim, primary

Published
2023
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41. Supplementary Information from Repurposing the Antidepressant Sertraline as SHMT Inhibitor to Suppress Serine/Glycine Synthesis–Addicted Breast Tumor Growth

Author

Geeraerts, Shauni Lien, primary, Kampen, Kim Rosalie, primary, Rinaldi, Gianmarco, primary, Gupta, Purvi, primary, Planque, Mélanie, primary, Louros, Nikolaos, primary, Heylen, Elien, primary, De Cremer, Kaat, primary, De Brucker, Katrijn, primary, Vereecke, Stijn, primary, Verbelen, Benno, primary, Vermeersch, Pieter, primary, Schymkowitz, Joost, primary, Rousseau, Frederic, primary, Cassiman, David, primary, Fendt, Sarah-Maria, primary, Voet, Arnout, primary, Cammue, Bruno P.A., primary, Thevissen, Karin, primary, and De Keersmaecker, Kim, primary

Published
2023
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44. Utility and prognostic value of diagnosing MAFLD in patients undergoing liver transplantation for alcohol‐related liver disease

Author

Vanlerberghe, Benedict T. K., primary, van Malenstein, Hannah, additional, Sainz‐Bariga, Mauricio, additional, Jochmans, Ina, additional, Cassiman, David, additional, Monbaliu, Diethard, additional, van der Merwe, Schalk, additional, Pirenne, Jacques, additional, Nevens, Frederik, additional, and Verbeek, Jef, additional

Published
2023
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46. Translatome analysis reveals altered serine and glycine metabolism in T-cell acute lymphoblastic leukemia cells

Author

Kampen, Kim R., Fancello, Laura, Girardi, Tiziana, Rinaldi, Gianmarco, Planque, Mélanie, Sulima, Sergey O., Loayza-Puch, Fabricio, Verbelen, Benno, Vereecke, Stijn, Verbeeck, Jelle, Op de Beeck, Joyce, Royaert, Jonathan, Vermeersch, Pieter, Cassiman, David, Cools, Jan, Agami, Reuven, Fiers, Mark, Fendt, Sarah-Maria, and De Keersmaecker, Kim

Published
2019
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47. Efficacy and safety of rosuvastatin therapy in children and adolescents with familial hypercholesterolemia: Results from the CHARON study

Author

Braamskamp, Marjet J.A.M., Langslet, Gisle, McCrindle, Brian W., Cassiman, David, Francis, Gordon A., Gagné, Claude, Gaudet, Daniel, Morrison, Katherine M., Wiegman, Albert, Turner, Traci, Kusters, D. Meeike, Miller, Elinor, Raichlen, Joel S., Wissmar, Jenny, Martin, Paul D., Stein, Evan A., and Kastelein, John J.P.

Published
2015
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49. Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial

Author

Schilsky, Michael L, primary, Czlonkowska, Anna, additional, Zuin, Massimo, additional, Cassiman, David, additional, Twardowschy, Carlos, additional, Poujois, Aurelia, additional, Gondim, Francisco de Assis A, additional, Denk, Gerald, additional, Cury, Rubens G, additional, Ott, Peter, additional, Moore, Joanna, additional, Ala, Aftab, additional, D'Inca, Renata, additional, Couchonnal-Bedoya, Eduardo, additional, D'Hollander, Koenraad, additional, Dubois, Nicolas, additional, Kamlin, C Omar F, additional, Weiss, Karl Heinz, additional, To, Uyen, additional, Patel, Amar, additional, Hettiarachchi, Daksshi, additional, Giorgini, Alessia, additional, Monico, Sara, additional, Litwin, Tomasz, additional, Piechal, Agnieszka, additional, Skowronska, Marta, additional, Lachaux, Alain, additional, Belmalih, Abdelouahed, additional, Boogers, Alexandra, additional, Mohr, Isabelle, additional, Langel, Andrea, additional, Freitas, Christian, additional, Barbosa, Egberto Reis, additional, Sandahl, Thomas D, additional, Gerdes, Lisbet, additional, Obadia, Alexandre, additional, Rahli, Djamila, additional, and Cosgrove, Jeremy, additional

Published
2022
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