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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

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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7. 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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8. 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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9. 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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10. 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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15. 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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17. 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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18. 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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19. 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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22. 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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23. Response by Kusters et al to Letter Regarding Article, “Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label)”

Author

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

Published
2018
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28. 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

29. 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

30. 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

32. 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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34. Genotype-Phenotype Correlations in PMM2-CDG

Author

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

Published
2021
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35. Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

Author

Brunham, Liam R., primary, Kang, Martin H., additional, Van Karnebeek, Clara, additional, Sadananda, Singh N., additional, Collins, Jennifer A., additional, Zhang, Lin-Hua, additional, Sayson, Bryan, additional, Miao, Fudan, additional, Stockler, Sylvia, additional, Frohlich, Jiri, additional, Cassiman, David, additional, Rabkin, Simon W., additional, and Hayden, Michael R., additional

Published
2014
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36. Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

Author

van der Tol, L., primary, Cassiman, David, additional, Houge, Gunnar, additional, Janssen, Mirian C., additional, Lachmann, Robin H, additional, Linthorst, Gabor E, additional, Ramaswami, Uma, additional, Sommer, Claudia, additional, Tøndel, Camilla, additional, West, Michael L, additional, Weidemann, Frank, additional, Wijburg, Frits A, additional, Svarstad, Einar, additional, Hollak, Carla EM, additional, and Biegstraaten, Marieke, additional

Published
2014
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38. Correction to:An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

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 A., 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, 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., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Malicdan, May Christine V., Tifft, Cynthia J., 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, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, 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, Vaz, Frédéric M., Clinical chemistry, Human genetics, ACS - Atherosclerosis & ischemic syndromes, and Amsterdam Reproduction & Development (AR&D)

Abstract

In the original author list, Seth Perlman’s degrees were listed as MD, PhD. Dr Perlman’s degree is MD. The original version has been corrected.

Published
2021

41. The Role of Brown Adipose Tissue in the Development and Treatment of Nonalcoholic Steatohepatitis: An Exploratory Gene Expression Study in Mice

Author

De Munck, Toon J., Xu, Pan, Vanderfeesten, Brechtje L. J., Elizalde, Montserrat, Masclee, Ad A. M., Nevens, Frederik, Cassiman, David, Schaap, Frank G., Jonkers, Daisy M. A. E., Verbeek, Jef, De Munck, Toon J., Xu, Pan, Vanderfeesten, Brechtje L. J., Elizalde, Montserrat, Masclee, Ad A. M., Nevens, Frederik, Cassiman, David, Schaap, Frank G., Jonkers, Daisy M. A. E., and Verbeek, Jef

Abstract

Brown adipose tissue (BAT) might be a beneficial mediator in the development and treatment of nonalcoholic steatohepatitis (NASH). We aim to evaluate the gene expression of BAT activity-related genes during the development and the dietary and surgical treatment of NASH. BAT was collected from male C57BL/6J mice that received a high fat-high sucrose diet (HF-HSD) or a normal chow diet (NCD) for 4 and 20 weeks (n=8-9 per dietary group and timepoint) and from mice that underwent dietary intervention (return to NCD) (n=8), roux-en-y gastric bypass (RYGB) (n=6), or sham procedure (n=6) after 12 weeks HF-HSD. Expression of BAT genes involved in lipid metabolism (Cd36 and Cpt1b; p

Published
2020

42. Kidney and vascular function in adult patients with hereditary fructose intolerance

Author

Simons, Nynke, Debray, François Guillaume, Schaper, Nicolaas C., Feskens, Edith J.M., Hollak, Carla E.M., Bons, Judith A.P., Bierau, Jörgen, Houben, Alfons J.H.M., Schalkwijk, Casper G., Stehouwer, Coen D.A., Cassiman, David, Brouwers, Martijn C.G.J., Simons, Nynke, Debray, François Guillaume, Schaper, Nicolaas C., Feskens, Edith J.M., Hollak, Carla E.M., Bons, Judith A.P., Bierau, Jörgen, Houben, Alfons J.H.M., Schalkwijk, Casper G., Stehouwer, Coen D.A., Cassiman, David, and Brouwers, Martijn C.G.J.

Abstract

Objective: Previous studies have shown that patients with hereditary fructose intolerance (HFI) are characterized by a greater intrahepatic triglyceride content, despite a fructose-restricted diet. The present study aimed to examine the long-term consequences of HFI on other aldolase-B-expressing organs, i.e. the kidney and vascular endothelium. Methods: Fifteen adult HFI patients were compared to healthy control individuals matched for age, sex and body mass index. Aortic stiffness was assessed by carotid-femoral pulse wave velocity (cf-PWV) and endothelial function by peripheral arterial tonometry, skin laser doppler flowmetry and the endothelial function biomarkers soluble E-selectin [sE-selectin] and von Willebrand factor. Serum creatinine and cystatin C were measured to estimate the glomerular filtration rate (eGFR). Urinary glucose and amino acid excretion and the ratio of tubular maximum reabsorption of phosphate to GFR (TmP/GFR) were determined as measures of proximal tubular function. Results: Median systolic blood pressure was significantly higher in HFI patients (127 versus 122 mmHg, p = .045). Pulse pressure and cf-PWV did not differ between the groups (p = .37 and p = .49, respectively). Of all endothelial function markers, only sE-selectin was significantly higher in HFI patients (p = .004). eGFR was significantly higher in HFI patients than healthy controls (119 versus 104 ml/min/1.73m2, p = .001, respectively). All measurements of proximal tubular function did not differ significantly between the groups. Conclusions: Adult HFI patients treated with a fructose-restricted diet are characterized by a higher sE-selectin level and slightly higher systolic blood pressure, which in time could contribute to a greater cardiovascular risk. The exact cause and, hence, clinical consequences of the higher eGFR in HFI patients, deserves further study.

Published
2020

43. The Influence of a Conjugated Pneumococcal Vaccination on Plasma Antibody Levels against Oxidized Low-Density Lipoprotein in Metabolic Disease Patients: A Single-Arm Pilot Clinical Trial

Author

Shiri-Sverdlov, Ronit, primary, dos Reis, Inês Magro, additional, Oligschlaeger, Yvonne, additional, Hendrikx, Tim, additional, Meesters, Dennis M., additional, Vanclooster, Annick, additional, Vanhoutvin, Nele, additional, Koek, Ger H., additional, Westerterp, Marit, additional, Binder, Christoph J., additional, Cassiman, David, additional, and Houben, Tom, additional

Published
2021
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44. Repurposing the Antidepressant Sertraline as SHMT Inhibitor to Suppress Serine/Glycine Synthesis–Addicted Breast Tumor Growth

Author

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

Published
2021
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45. Galactokinase deficiency: lessons from the GalNet registry

Author

Rubio-Gozalbo, M. Estela, primary, Derks, Britt, additional, Das, Anibh Martin, additional, Meyer, Uta, additional, Möslinger, Dorothea, additional, Couce, M. Luz, additional, Empain, Aurélie, additional, Ficicioglu, Can, additional, Juliá Palacios, Natalia, additional, De Los Santos De Pelegrin, Mariela M., additional, Rivera, Isabel A., additional, Scholl-Bürgi, Sabine, additional, Bosch, Annet M., additional, Cassiman, David, additional, Demirbas, Didem, additional, Gautschi, Matthias, additional, Knerr, Ina, additional, Labrune, Philippe, additional, Skouma, Anastasia, additional, Verloo, Patrick, additional, Wortmann, Saskia B., additional, Treacy, Eileen P., additional, Timson, David J., additional, and Berry, Gerard T., additional

Published
2021
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47. Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotype

Author

Declercq, Mathias, primary, de Zeeuw, Pauline, additional, Conchinha, Nadine V., additional, Geldhof, Vincent, additional, Ramalho, Anabela S., additional, García-Caballero, Melissa, additional, Brepoels, Katleen, additional, Ensinck, Marjolein, additional, Carlon, Marianne S., additional, Bird, Matthew J., additional, Vinckier, Stefan, additional, Proesmans, Marijke, additional, Vermeulen, François, additional, Dupont, Lieven, additional, Ghesquière, Bart, additional, Dewerchin, Mieke, additional, Carmeliet, Peter, additional, Cassiman, David, additional, Treps, Lucas, additional, Eelen, Guy, additional, and Witters, Peter, additional

Published
2020
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48. Abstract 1789: Repurposing the anti-depressant sertraline to target serine/glycine synthesis addicted cancer

Author

Geeraerts, Shauni L., primary, Kampen, Kim R., additional, Rinaldi, Gianmarco, additional, Gupta, Purvi, additional, Planque, Mélanie, additional, De Cremer, Kaat, additional, De Brucker, Katrijn, additional, Vereecke, Stijn, additional, Verbelen, Benno, additional, Vermeersch, Pieter, additional, Cassiman, David, additional, Fendt, Sarah-Maria, additional, Voet, Arnout, additional, Cammue, Bruno P.A., additional, Thevissen, Karin, additional, and De Keersmaecker, Kim, additional

Published
2020
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49. Kidney and vascular function in adult patients with hereditary fructose intolerance

Author

Simons, Nynke, primary, Debray, François-Guillaume, additional, Schaper, Nicolaas C., additional, Feskens, Edith J.M., additional, Hollak, Carla E.M., additional, Bons, Judith A.P., additional, Bierau, Jörgen, additional, Houben, Alfons J.H.M., additional, Schalkwijk, Casper G., additional, Stehouwer, Coen D.A., additional, Cassiman, David, additional, and Brouwers, Martijn C.G.J., additional

Published
2020
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50. Dietary plant stanol ester supplementation reduces peripheral symptoms in a mouse model of Niemann-Pick type C1 disease

Author

Magro dos Reis, Inês, primary, Houben, Tom, additional, Oligschläger, Yvonne, additional, Bücken, Leoni, additional, Steinbusch, Hellen, additional, Cassiman, David, additional, Lütjohann, Dieter, additional, Westerterp, Marit, additional, Prickaerts, Jos, additional, Plat, Jogchum, additional, and Shiri-Sverdlov, Ronit, additional

Published
2020
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