المؤلفون: Amée M. Buziau, Maaike H. Oosterveer, Kristiaan Wouters, Trijnie Bos, Dean R. Tolan, Loranne Agius, Brian E. Ford, David Cassiman, Coen D.A. Stehouwer, Casper G. Schalkwijk, Martijn C.G.J. Brouwers

المصدر: Molecular Metabolism, Vol 87, Iss , Pp 101984- (2024)

مصطلحات موضوعية: Fructose, Aldolase B, GKRP, ChREBP, de novo lipogenesis, Glucose signalling, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2212877824001157; https://doaj.org/toc/2212-8778

URL الوصول: https://doaj.org/article/f788e7cbbd6b437a8180795a7483cdf6

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

المصدر: JHEP Reports, Vol 6, Iss 8, Pp 101115- (2024)

مصطلحات موضوعية: Exchangeable copper, bioavailable copper, free serum copper, protein speciation, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589555924001198; https://doaj.org/toc/2589-5559

URL الوصول: https://doaj.org/article/90b27145c7244d369bafae9917758cfd

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

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: classic galactosemia, brain, galactose, cognitive problems, neurodevelopment, movement disorders, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8

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

المصدر: Transplant International, Vol 37 (2024)

مصطلحات موضوعية: alcohol-related liver disease, de novo malignancy, calcineurin inhibitor, tacrolimus drug exposure level, liver transplantation, Specialties of internal medicine, RC581-951

وصف الملف: electronic resource

Relation: https://www.frontierspartnerships.org/articles/10.3389/ti.2024.12055/full; https://doaj.org/toc/1432-2277

URL الوصول: https://doaj.org/article/c1917f9768d3454fb0d6337e68df3760

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

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/bb99d7ed4031494bb213b8c0686b2ffe

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

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Acute hepatic porphyria, Givosiran, Disease burden, Porphyria attack, Chronic symptoms, Quality of life, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/126628ee581049f09f0b982642040408

المؤلفون: Marijn Thijssen, Frank Tacke, Lore Van Espen, David Cassiman, Mahmoud Naser Aldine, Frederik Nevens, Marc Van Ranst, Jelle Matthijnssens, Mahmoud Reza Pourkarim

المصدر: Frontiers in Microbiology, Vol 14 (2023)

مصطلحات موضوعية: virome, hepatitis B virus, anellovirus, pegivirus, blood, plasma, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmicb.2023.1172574/full; https://doaj.org/toc/1664-302X

URL الوصول: https://doaj.org/article/5aed98fa879f481bb03c77bb4e8f9393

المؤلفون: Isabelle Adant, Matthew Bird, Bram Decru, Petra Windmolders, Marie Wallays, Peter de Witte, Daisy Rymen, Peter Witters, Pieter Vermeersch, David Cassiman, Bart Ghesquière

المصدر: Molecular Metabolism, Vol 63, Iss , Pp 101537- (2022)

مصطلحات موضوعية: Primary mitochondrial disease, OXPHOS, Aspartic acid, Treatment, Pyruvate and uridine, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2212877822001065; https://doaj.org/toc/2212-8778

URL الوصول: https://doaj.org/article/7ed8e9ba5937483b8ad271db0b82cab8

المؤلفون: Mark P. Connolly, Nikos Kotsopoulos, Sebastian Vermeersch, Julien Patris, David Cassiman

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Acute hepatic porphyria (AHP), Disability, Public economics, Cost-analysis, Taxation, Public benefits, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c4145e5a7061439eb60f1ef7dcd05641

المؤلفون: Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-5 (2021)

مصطلحات موضوعية: PMM2-CDG, D-galactose, Glycosylation, Congenital disorder of glycosylation (CDG), Nijmegen pediatric CDG rating scale (NPCRS), Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/98a47cb41a374cca87a5af553766ff34

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

المصدر: Journal of Lipid Research, Vol 61, Iss 6, Pp 830-839 (2020)

مصطلحات موضوعية: inflammation, cholesterol metabolism, diet, dietary lipids, liver, atherosclerosis, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520435953; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/434fe1a8217e44d2bc0e2039df382693

المؤلفون: Stijn L.M. in ’t Groen, Douglas O.S. de Faria, Alessandro Iuliano, Johanna M.P. van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M. Somers-Bolman, Jasper J. Saris, Lies H. Hoefsloot, Ans T. van der Ploeg, Atze J. Bergsma, W.W.M. Pim Pijnappel

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 337-348 (2020)

مصطلحات موضوعية: glycogen storage disease type II, Pompe disease, diagnostics, mosaicism, segmental uniparental isodisomy, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050120300073; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/e6495002c7f2473f996cb5f819b48be9

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

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/0a789642bd074590a245141b427513bf

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

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Tyrosinemia type 1, Behavior problems, Health related-quality of life, Phenylalanine, Tyrosine, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/456f9a0c82e24d62a934b9c10dcac704

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

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/556b5b4b144641dfbb1f4cc05deaa24e

المؤلفون: Francesco Emma, Giovanni Montini, Marco Pennesi, Licia Peruzzi, Enrico Verrina, Bianca Maria Goffredo, Fabrizio Canalini, David Cassiman, Silvia Rossi, Elena Levtchenko

المصدر: Cells, Vol 11, Iss 11, p 1839 (2022)

مصطلحات موضوعية: nephropathic cystinosis, biomarkers, cystine, cysteamine, kidney, therapeutic monitoring, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/11/11/1839; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/1fac9fa79b8349c7a4e1b95016ac8878

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

المصدر: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)

مصطلحات موضوعية: Case-control study, Hereditary fructose intolerance, Fanconi syndrome, Kidney, Blood, Vessels, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692030046X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/5f04753f27334e6fa9f366e194480bc1

المؤلفون: Teun M. Klein Gunnewiek, Eline J.H. Van Hugte, Monica Frega, Gemma Solé Guardia, Katharina Foreman, Daan Panneman, Britt Mossink, Katrin Linda, Jason M. Keller, Dirk Schubert, David Cassiman, Richard Rodenburg, Noemi Vidal Folch, Devin Oglesbee, Ester Perales-Clemente, Timothy J. Nelson, Eva Morava, Nael Nadif Kasri, Tamas Kozicz

المصدر: Cell Reports, Vol 31, Iss 3, Pp - (2020)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124720304381; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/db72172982f844a182028f325789bcff

المؤلفون: Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne, Isabelle Meyts

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Vitamin A, Liver transplantation, Shwachman-Diamond syndrome, Hepatopulmonary syndrome, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0818-2; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/2f912709928d489d8347e68140e863f3

المؤلفون: Nicholas Gilbo, MD, Ina Jochmans, PhD, Mauricio Sainz-Barriga, PhD, Frederik Nevens, PhD, Schalk van der Merwe, PhD, Wim Laleman, PhD, Chris Verslype, PhD, David Cassiman, PhD, Len Verbeke, PhD, Hannah van Malenstein, PhD, Tania Roskams, PhD, Jacques Pirenne, PhD, Diethard Monbaliu, PhD

المصدر: Transplantation Direct, Vol 5, Iss 4, p e342 (2019)

مصطلحات موضوعية: Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://journals.lww.com/transplantationdirect/fulltext/10.1097/TXD.0000000000000883; https://doaj.org/toc/2373-8731

URL الوصول: https://doaj.org/article/e42d6a9975634a9497841d5fe6716444