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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

5. 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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6. 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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7. 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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9. 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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10. 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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13. 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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14. 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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15. 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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18. 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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19. 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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20. 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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22. 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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23. 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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26. 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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27. 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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28. EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms

Author

Cassiman, David, primary, Kauppinen, Raili, additional, Monroy, Susana, additional, Lee, Ming‐Jen, additional, Bonkovsky, Herbert L., additional, Thapar, Manish, additional, Guillén‐Navarro, Encarna, additional, Minder, Anna‐Elisabeth, additional, Hale, Cecilia, additional, Sweetser, Marianne T., additional, and Ivanova, Aneta, additional

Published
2022
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29. Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.

Author

Stein, Penelope E., Edel, Yonatan, Mansour, Razan, Mustafa, Reem A., Sandberg, Sverre, Aarsand, Aasne K., Anderson, Karl E., Badminton, Michael, Balwani, Manisha, Bonkovsky, Herbert L., Cappellini, Maria Domenica, Cassiman, David, Deybach, Jean‐Charles, El Mikati, Ibrahim, Gill, Liz, Gouya, Laurent, Harper, Pauline, Hift, Richard, Ivanova, Aneta, and Langendonk, Janneke G.

Abstract

Acute porphyrias are a group of rare inherited disorders causing acute neurovisceral attacks. Many terms used frequently in the literature and clinical practice are ambiguous, which can lead to confusion in the way patients are managed, studied, and reported in clinical studies. Agreed definitions are a necessary first step in developing management guidelines and will facilitate communication of results of future clinical research. The Delphi method was used to generate consensus on key terms and definitions in acute porphyria. The process started with a brainstorming phase offered to all members of the European Porphyria Network followed by two Delphi rounds among international experts in the field of porphyria (the Acute Porphyria Expert Panel). A consensus of 75% or more was defined as the agreement threshold. A total of 63 respondents from 26 countries participated in the brainstorming phase, leading to the choice of nine terms and definitions. A total of 34 experts were invited to take part in the Delphi rounds. Seven of the initial nine terms and definitions which entered the first Delphi round achieved the threshold for agreement. Following a second Delphi round, all nine definitions achieved agreement. Agreement on the definitions for nine important terms describing acute porphyrias represents a significant step forward for the porphyria community. It will facilitate more accurate comparison of outcomes among porphyria centres and in clinical trials and provide a strong framework for developing evidence‐based clinical guidelines. [ABSTRACT FROM AUTHOR]

Published
2023
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32. Uncovering monocyte transcription, functional and metabolic signatures in recovery and non-recovery ACLF patients

Author

de Azevedo, Rita Furtado Feio, primary, Korf, Hannelie, additional, Boesch, Markus, additional, Radenkovic, Silvia, additional, Wallays, Marie, additional, Smets, Lena, additional, Van Melkebeke, Lukas, additional, Ghesquière, Bart, additional, Cassiman, David, additional, Meersseman, Philippe, additional, Van Malenstein, Hannah, additional, Nevens, Frederik, additional, Laleman, Wim, additional, Verbeek, Jef, additional, and van der Merwe, Schalk, additional

Published
2022
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33. Clinical utility of non-ceruloplasmin copper determined by copper speciation for monitoring Wilson disease therapy: comparative data analysis with 24-hour urinary copper excretion from the CHELATE trial

Author

Schilsky, Michael, primary, Poujois, Aurelia, additional, Zuin, Massimo Giovanni, additional, Ott, Peter, additional, Weiss, Karl Heinz, additional, Cassiman, David, additional, Ala, Aftab, additional, Czlonkowska, Anna, additional, Dubois, Nicolas, additional, Amin, Naseem, additional, and Kamlin, C.Oma, additional

Published
2022
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34. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Author

van Vliet, Kimber, primary, van Ginkel, Willem G., additional, Jahja, Rianne, additional, Daly, Anne, additional, MacDonald, Anita, additional, Santra, Saikat, additional, De Laet, Corinne, additional, Goyens, Philippe J., additional, Vara, Roshni, additional, Rahman, Yusof, additional, Cassiman, David, additional, Eyskens, Francois, additional, Timmer, Corrie, additional, Mumford, Nicky, additional, Gissen, Paul, additional, Bierau, Jörgen, additional, van Hasselt, Peter M., additional, Wilcox, Gisela, additional, Morris, Andrew A. M., additional, Jameson, Elisabeth A., additional, de la Parra, Alicia, additional, Arias, Carolina, additional, Garcia, Maria I., additional, Cornejo, Veronica, additional, Bosch, Annet M., additional, Hollak, Carla E. M., additional, Rubio‐Gozalbo, M. Estela, additional, Brouwers, Martijn C. G. J., additional, Hofstede, Floris C., additional, de Vries, Maaike C., additional, Janssen, Mirian C. H., additional, van der Ploeg, Ans T., additional, Langendonk, Janneke G., additional, Huijbregts, Stephan C. J., additional, and van Spronsen, Francjan J., additional

Published
2022
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36. A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge

Author

Ailliet, Scott, Vandenberghe, Rik, Schiemsky, Toon, Van Overbeke, Lode, Demaerel, Philippe, Meersseman, Wouter, Cassiman, David, Vermeersch, Pieter, Ailliet, Scott, Vandenberghe, Rik, Schiemsky, Toon, Van Overbeke, Lode, Demaerel, Philippe, Meersseman, Wouter, Cassiman, David, and Vermeersch, Pieter

Abstract

Vitamin B12 deficiency can present with neurologic and psychiatric symptoms without macrocytic anaemia. We describe a case of late-onset cobalamin C deficiency which typically presents with normal serum vitamin B12 concentrations, posing an additional diagnostic challenge. A 23-year-old woman with decreased muscle strength and hallucinations was diagnosed with ‘catatonic depression’ and admitted to a residential mental health facility. She was referred to our hospital for further investigation 3 months later. Heteroanamnesis revealed that the symptoms had been evolving progressively over several months. Magnetic resonance imaging (MRI) of the brain showed diffuse symmetrical white matter lesions in both hemispheres. Routine laboratory tests including vitamin B12 and folic acid were normal except for a slight normocytic, normochromic anaemia. Over the next 6 weeks her symptoms deteriorated, and she became unresponsive to stimuli. A new MRI scan showed progression of the white matter lesions. The neurologist requested plasma homocysteine (Hcys) which was more than 8 times the upper limit of normal. Further testing revealed increased methylmalonic acid and the patient was diagnosed with adult-onset cobalamin C deficiency. This case illustrates that Hcys and/or methylmalonic acid should be determined in patients presenting with neuropsychiatric symptoms suggestive of vitamin B12 deficiency with a normal serum vitamin B12 to rule out a late-onset cobalamin C deficiency.

Published
2022

37. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria:A comparison between two genetic disorders affecting the same metabolic pathway

Author

van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., van Spronsen, Francjan J., van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., and van Spronsen, Francjan J.

Abstract

Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine–tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients. We included 33 TT1 patients (mean age 11.24 years; 16 male), 31 PKU patients (mean age 10.84; 14 male), and 58 age- and gender-matched healthy controls (mean age 10.82 years; 29 male). IQ (Wechsler-subtests), executive functioning (the Behavioral Rating Inventory of Executive Functioning), mental health (the Achenbach-scales), and social functioning (the Social Skills Rating System) were assessed. Results of TT1 patients, PKU patients, and healthy controls were compared using Kruskal–Wallis tests with post-hoc Mann–Whitney U tests. TT1 patients showed a lower IQ and poorer executive functioning, mental health, and social functioning compared to healthy controls and PKU patients. PKU patients did not differ from healthy controls regarding these outcome measures. Relatively poor outcomes for TT1 patients were particularly evident for verbal IQ, BRIEF dimensions “working memory”, “plan and organize” and “monitor”, ASEBA dimensions “social problems” and “attention problems”, and for the SSRS “assertiveness” scale (all p values <0.001). To conclude, TT1 patients showed cognitive impairments on all domains studied, and appeared to be significantly more affected than PKU patients. More attention should be paid to investigating and monitoring neurocognitive outcome in TT1 and research should focus on explaining the underlying pathophysiological mechanism.

Published
2022

38. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Author

Metabole ziekten patientenzorg, Child Health, Infection & Immunity, Integrale & Alg. Kindergen Patientenzorg, van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., van Spronsen, Francjan J., Metabole ziekten patientenzorg, Child Health, Infection & Immunity, Integrale & Alg. Kindergen Patientenzorg, van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., and van Spronsen, Francjan J.

Published
2022

41. Overlapping and divergent hepatic and lipoprotein phenotypes in untreated adults with acid sphingomyelinase deficiency versus untreated adults with Gaucher disease from two pivotal clinical trials

Author

Cassiman, David, primary, Mistry, Pramod K., additional, Jones, Simon A., additional, Lachmann, Robin, additional, Lukina, Elena, additional, Prada, Carlos E., additional, Thurberg, Beth L., additional, Wasserstein, Melissa P., additional, Foster, Meredith C., additional, Patel, Reema M., additional, Ribes, Manuel, additional, Underhill, Lisa H., additional, and Peterschmitt, M. Judith, additional

Published
2022
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42. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Author

Ferdinandusse, Sacha, primary, McWalter, Kirsty, additional, te Brinke, Heleen, additional, IJlst, Lodewijk, additional, Mooijer, Petra M., additional, Ruiter, Jos P.N., additional, van Lint, Alida E.M., additional, Pras-Raves, Mia, additional, Wever, Eric, additional, Millan, Francisca, additional, Guillen Sacoto, Maria J., additional, Begtrup, Amber, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Ladda, Roger L., additional, Sell, Susan L., additional, Nowak, Catherine B., additional, Douglas, Jessica, additional, Tian, Cuixia, additional, Ulm, Elizabeth, additional, Perlman, Seth, additional, Drack, Arlene V., additional, Chong, Karen, additional, Martin, Nicole, additional, Brault, Jennifer, additional, Brokamp, Elly, additional, Toro, Camilo, additional, Gahl, William A., additional, Macnamara, Ellen F., additional, Wolfe, Lynne, additional, Alejandro, Mercedes E., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Craigen, William J., additional, Dai, Hongzheng, additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Goldman, Alica M., additional, Hanchard, Neil A., additional, Jamal, Fariha, additional, Karaviti, Lefkothea, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Marom, Ronit, additional, Moretti, Paolo M., additional, Murdock, David R., additional, Nicholas, Sarah K., additional, Orengo, James P., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Samson, Susan L., additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Vogel, Tiphanie P., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Liu, Pengfei, additional, Ward, Patricia A., additional, Behrens, Edward, additional, Deardorff, Matthew, additional, Falk, Marni, additional, Hassey, Kelly, additional, Sullivan, Kathleen, additional, Vanderver, Adeline, additional, Goldstein, David B., additional, Cope, Heidi, additional, McConkie-Rosell, Allyn, additional, Schoch, Kelly, additional, Shashi, Vandana, additional, Smith, Edward C., additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Tan, Queenie K.-G., additional, Walley, Nicole M., additional, Agrawal, Pankaj B., additional, Beggs, Alan H., additional, Berry, Gerard T., additional, Briere, Lauren C., additional, Cobban, Laurel A., additional, Coggins, Matthew, additional, Cooper, Cynthia M., additional, Fieg, Elizabeth L., additional, High, Frances, additional, Holm, Ingrid A., additional, Korrick, Susan, additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rao, Deepak A., additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walker, Melissa, additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Kelley, Emily G., additional, Kohane, Isaac S., additional, LeBlanc, Kimberly, additional, McCray, Alexa T., additional, Nagy, Anna, additional, Dasari, Surendra, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Morava, Eva, additional, Oglesbee, Devin, additional, Bademci, Guney, additional, Barbouth, Deborah, additional, Bivona, Stephanie, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Forghani, Irman, additional, Grajewski, Alana, additional, Isasi, Rosario, additional, Lam, Byron, additional, Levitt, Roy, additional, Liu, Xue Zhong, additional, McCauley, Jacob, additional, Sacco, Ralph, additional, Saporta, Mario, additional, Schaechter, Judy, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Zuchner, Stephan, additional, Colley, Heather A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Findley, Laurie C., additional, Krasnewich, Donna M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, LaMoure, Grace L., additional, Goldrich, Madison P., additional, Urv, Tiina K., additional, Doss, Argenia L., additional, Acosta, Maria T., additional, Bonnenmann, Carsten, additional, D’Souza, Precilla, additional, Draper, David D., additional, Ferreira, Carlos, additional, Godfrey, Rena A., additional, Groden, Catherine A., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, Nath, Avi, additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Wahl, Colleen E., additional, Baker, Eva, additional, Burke, Elizabeth A., additional, Adams, David R., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Yang, John, additional, Power, Bradley, additional, Gochuico, Bernadette, additional, Huryn, Laryssa, additional, Latham, Lea, additional, Davis, Joie, additional, Mosbrook-Davis, Deborah, additional, Rossignol, Francis, additional, Solomon, Ben, additional, MacDowall, John, additional, Thurm, Audrey, additional, Zein, Wadih, additional, Yousef, Muhammad, additional, Adam, Margaret, additional, Amendola, Laura, additional, Bamshad, Michael, additional, Beck, Anita, additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Blue, Elizabeth, additional, Boyd, Brenna, additional, Byers, Peter, additional, Chanprasert, Sirisak, additional, Cunningham, Michael, additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Earl, Dawn, additional, Glass, Ian, additional, Golden-Grant, Katie, additional, Hahn, Sihoun, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Horike-Pyne, Martha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Lam, Christina, additional, Maravilla, Kenneth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Mirzaa, Ghayda, additional, Nickerson, Deborah, additional, Raskind, Wendy, additional, Rosenwasser, Natalie, additional, Scott, C. Ron, additional, Sun, Angela, additional, Sybert, Virginia, additional, Wallace, Stephanie, additional, Wener, Mark, additional, Wenger, Tara, additional, Ashley, Euan A., additional, Bejerano, Gill, additional, Bernstein, Jonathan A., additional, Bonner, Devon, additional, Coakley, Terra R., additional, Fernandez, Liliana, additional, Fisher, Paul G., additional, Fresard, Laure, additional, Hom, Jason, additional, Huang, Yong, additional, Kohler, Jennefer N., additional, Kravets, Elijah, additional, Majcherska, Marta M., additional, Martin, Beth A., additional, Marwaha, Shruti, additional, McCormack, Colleen E., additional, Raja, Archana N., additional, Reuter, Chloe M., additional, Ruzhnikov, Maura, additional, Sampson, Jacinda B., additional, Smith, Kevin S., additional, Sutton, Shirley, additional, Tabor, Holly K., additional, Tucker, Brianna M., additional, Wheeler, Matthew T., additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Byrd, William E., additional, Crouse, Andrew B., additional, Might, Matthew, additional, Nakano-Okuno, Mariko, additional, Whitlock, Jordan, additional, Brown, Gabrielle, additional, Butte, Manish J., additional, Dell’Angelica, Esteban C., additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Fogel, Brent L., additional, Gutierrez, Irma, additional, Huang, Alden, additional, Krakow, Deborah, additional, Lee, Hane, additional, Loo, Sandra K., additional, Mak, Bryan C., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, McGee, Elisabeth, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Renteria, Genecee, additional, Signer, Rebecca H., additional, Sinsheimer, Janet S., additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Perry, Katherine Wesseling, additional, Woods, Jeremy D., additional, Alvey, Justin, additional, Andrews, Ashley, additional, Bale, Jim, additional, Bohnsack, John, additional, Botto, Lorenzo, additional, Carey, John, additional, Pace, Laura, additional, Longo, Nicola, additional, Marth, Gabor, additional, Moretti, Paolo, additional, Quinlan, Aaron, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Bayrak-Toydemir, Pinar, additional, Mao, Rong, additional, Westerfield, Monte, additional, Bican, Anna, additional, Duncan, Laura, additional, Hamid, Rizwan, additional, Kennedy, Jennifer, additional, Kozuira, Mary, additional, Newman, John H., additional, Phillips, John A., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Solem, Emily, additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Hayes, Nichole, additional, Kiley, Dana, additional, Sisco, Kathy, additional, Wambach, Jennifer, additional, Wegner, Daniel, additional, Baldridge, Dustin, additional, Pak, Stephen, additional, Schedl, Timothy, additional, Shin, Jimann, additional, Solnica-Krezel, Lilianna, additional, Waisfisz, Quinten, additional, Zwijnenburg, Petra J.G., additional, Ziegler, Alban, additional, Barth, Magalie, additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Gaebler-Spira, Deborah, additional, Bakhtiari, Somayeh, additional, Kruer, Michael C., additional, van Kampen, Antoine H.C., additional, Wanders, Ronald J.A., additional, Waterham, Hans R., additional, Cassiman, David, additional, and Vaz, Frédéric M., additional

Published
2021
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44. SAT-390 - Distinct immunometabolic signatures in circulating immune cells define disease outcomes in acute-on-chronic liver failure

Author

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

Published
2023
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45. SAT-524 - 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, Armandi, Angelo, Kwanten, Wilhelmus, Vonghia, Luisa, Werner, Merle Marie, Merizian, Talal, Semmler, Georg, Reiberger, Thomas, Vanwolleghem, Thomas, Cassiman, David, Francque, Sven, Schattenberg, Jörn, and Laleman, Wim

Published
2023
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46. Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications.

Author

Ligezka, Anna N., Radenkovic, Silvia, Saraswat, Mayank, Garapati, Kishore, Ranatunga, Wasantha, Krzysciak, Wirginia, Yanaihara, Hitoshi, Preston, Graeme, Brucker, William, McGovern, Renee M., Reid, Joel M., Cassiman, David, Muthusamy, Karthik, Johnsen, Christin, Mercimek‐Andrews, Saadet, Larson, Austin, Lam, Christina, Edmondson, Andrew C., Ghesquière, Bart, and Witters, Peter

Subjects
SORBITOL, CHILD patients, TREATMENT effectiveness, ALDOSE reductase, DIABETIC neuropathies
Abstract

Objective: Epalrestat, an aldose reductase inhibitor increases phosphomannomutase (PMM) enzyme activity in a PMM2‐congenital disorders of glycosylation (CDG) worm model. Epalrestat also decreases sorbitol level in diabetic neuropathy. We evaluated the genetic, biochemical, and clinical characteristics, including the Nijmegen Progression CDG Rating Scale (NPCRS), urine polyol levels and fibroblast glycoproteomics in patients with PMM2‐CDG. Methods: We performed PMM enzyme measurements, multiplexed proteomics, and glycoproteomics in PMM2‐deficient fibroblasts before and after epalrestat treatment. Safety and efficacy of 0.8 mg/kg/day oral epalrestat were studied in a child with PMM2‐CDG for 12 months. Results: PMM enzyme activity increased post‐epalrestat treatment. Compared with controls, 24% of glycopeptides had reduced abundance in PMM2‐deficient fibroblasts, 46% of which improved upon treatment. Total protein N‐glycosylation improved upon epalrestat treatment bringing overall glycosylation toward the control fibroblasts' glycosylation profile. Sorbitol levels were increased in the urine of 74% of patients with PMM2‐CDG and correlated with the presence of peripheral neuropathy, and CDG severity rating scale. In the child with PMM2‐CDG on epalrestat treatment, ataxia scores improved together with significant growth improvement. Urinary sorbitol levels nearly normalized in 3 months and blood transferrin glycosylation normalized in 6 months. Interpretation: Epalrestat improved PMM enzyme activity, N‐glycosylation, and glycosylation biomarkers in vitro. Leveraging cellular glycoproteome assessment, we provided a systems‐level view of treatment efficacy and discovered potential novel biosignatures of therapy response. Epalrestat was well‐tolerated and led to significant clinical improvements in the first pediatric patient with PMM2‐CDG treated with epalrestat. We also propose urinary sorbitol as a novel biomarker for disease severity and treatment response in future clinical trials in PMM2‐CDG. ANN NEUROL 20219999:n/a–n/a [ABSTRACT FROM AUTHOR]

Published
2021
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48. Patents vs patients 1‐0: The case of chenodeoxycholic acid.

Author

Briké, Sarah Marie, Meersseman, Wouter, and Cassiman, David

Abstract

Profit‐driven games with the availability and prices of chenodeoxycholic acid led to the discontinuation of proper treatment for this cerebrotendinous xanthomatosis patient with disastrous consequences to his health. [ABSTRACT FROM AUTHOR]

Published
2022
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49. Genotype-Phenotype Correlations in PMM2-CDG.

Author

Vaes, Laurien, Rymen, Daisy, Cassiman, David, Ligezka, Anna, Vanhoutvin, Nele, Quelhas, Dulce, Morava, Eva, and Witters, Peter

Subjects
RARE diseases, GENETIC mutation, CHI-squared test, GENOTYPES, PHENOTYPES, PROGNOSIS
Abstract

PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients. We collected the identified genotype, as well as continuous variables indicating the disease severity (based on Nijmegen Pediatric CDG Rating Score or NPCRS) and dichotomous variables reflecting the patients' phenotype. The phenotypic effects of patients' genotype were studied using non-parametric and Chi-Square tests. Seventeen different pathogenic variants have been studied. Variants with zero enzyme activity had no significant impact on the Nijmegen score. Pathogenic variants involving the stabilization/folding domain have a significantly lower total NPCRS (p = 0.017): presence of the p.Cys241Ser mutation had a significantly lower subscore 1,3 and NPCRS (p = 0.04) and thus result in a less severe phenotype. On the other hand, variants involving the dimerization domain, p.Pro113Leu and p.Phe119Leu, resulted in a significantly higher NPCRS score (p = 0.002), which indicates a worse clinical course. These concepts give a better insight in the phenotypic prognosis of PMM2-CDG, according to their molecular base. [ABSTRACT FROM AUTHOR]

Published
2021
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50. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1resulting in uncontrolled synthesis of ether lipids

Author

Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P.N., van Lint, Alida E.M., 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, Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Jennifer A., Tan, Queenie K.-G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Toro, Camilo, Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Solomon, Ben, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Moretti, Paolo, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Brokamp, Elly, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., Phillips, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C., van Kampen, Antoine H.C., Wanders, Ronald J.A., Waterham, Hans R., Cassiman, David, and Vaz, Frédéric M.

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2021
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