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UMC Repository: Recent submissions

  • Transgenic zebrafish modeling low-molecular-weight proteinuria and lysosomal storage diseases 
    Chen, Zhiyong; Luciani, Alessandro; Mateos, José María; Barmettler, Gery; Giles, Rachel H.; Neuhauss, Stephan C.F.; Devuyst, Olivier (Elsevier, 2020-06)
    Epithelial cells lining the proximal tubule of the kidney reabsorb and metabolize most of the filtered low-molecular-weight proteins through receptor-mediated endocytosis and lysosomal processing. Congenital and acquired ...
  • Diagnosing deep vein thrombosis in cancer patients with suspected symptoms: an individual participant data meta-analysis 
    Takada, Toshihiko; van Doorn, Sander; Parpia, Sameer; de Wit, Kerstin; Anderson, David R; Stevens, Scott M; Woller, Scott C; Ten Cate-Hoek, Arina J; Elf, Johan L; Kraaijenhagen, Roderik A; Schutgens, Roger E G; Wells, Phil S; Kearon, Clive; Moons, Karel G M; Geersing, Geert-Jan (Wiley-Blackwell, 2020-09)
    BACKGROUND: A previous individual participant data (IPD) meta-analysis showed that the Wells rule and D-dimer testing cannot exclude suspected deep vein thrombosis (DVT) in cancer patients. OBJECTIVES: To explore reasons ...
  • High Five for Low Five 
    Schutgens, Roger E G (Wolters Kluwer Health, 2020-04)
  • Prognostic biomarker soluble ST2 exhibits diurnal variation in chronic heart failure patients 
    Crnko, Sandra; Printezi, Markella I; Jansen, Tijn P J; Leiteris, Laurynas; van der Meer, Manon G; Schutte, Hilde; van Faassen, Martijn; du Pré, Bastiaan C; de Jonge, Nicolaas; Asselbergs, Folkert W; Gaillard, Carlo A J M; Kemperman, Hans; Doevendans, Pieter A; Sluijter, Joost P G; van Laake, Linda W (John Wiley & Sons Inc., 2020-06-01)
    AIM: Soluble suppression of tumorigenicity-2 (sST2) is a strong prognostic biomarker in heart failure. The emerging understanding of circadian biology in cardiovascular disease may lead to novel applications in prognosis ...
  • Clinical pre-test probability adjusted versus age-adjusted D-dimer interpretation strategy for DVT diagnosis: A diagnostic individual patient data meta-analysis 
    Parpia, Sameer; Takach Lapner, Sarah; Schutgens, Roger; Elf, Johan; Geersing, Geert Jan; Kearon, Clive (Wiley-Blackwell, 2020-03-01)
    Background: To increase the clinical usefulness of the D-dimer test in diagnosis of deep vein thrombosis (DVT), two strategies have been proposed: the age-adjusted, and the clinical pre-test probability (CPTP) adjusted ...
  • Inverse Association between Iron Deficiency and Glycated Hemoglobin Levels in Ghanaian Adults-the RODAM Study 
    Lyons, Julia; van der Linden, Eva L; Meeks, Karlijn; Beune, Erik; Smeeth, Liam; Bahendeka, Silver; Spranger, Joachim; Klipstein-Grobusch, Kerstin; Mockenhaupt, Frank P; Danquah, Ina; Agyemang, Charles (Elsevier, 2020-07-01)
    BACKGROUND: Glycated hemoglobin (HbA1c) is often used to diagnose type 2 diabetes (T2D), but studies show that iron deficiency (ID) is associated with elevated HbA1c in the absence of hyperglycemia. It is unknown whether ...
  • The variable manifestations of disease in pyruvate kinase deficiency and their management 
    Al-Samkari, Hanny; van Beers, Eduard J; Kuo, Kevin H M; Barcellini, Wilma; Bianchi, Paola; Glenthøj, Andreas B; Mañú-Pereira, María; van Wijk, Richard; Glader, Bertil; Grace, Rachael F (Ferrata Storti Foundation, 2020-09)
    Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of disease. The diagnosis of PKD requires a high index of suspicion and ...
  • Interplay of erythropoietin, fibroblast growth factor 23, and erythroferrone in patients with hereditary hemolytic anemia 
    van Vuren, Annelies J; Eisenga, Michele F; van Straaten, Stephanie; Glenthøj, Andreas; Gaillard, Carlo A J M; Bakker, Stephan J L; de Borst, Martin H; van Wijk, Richard; van Beers, Eduard J (The American Society of Hematology, 2020-04-28)
    Recently, erythropoietin (EPO) was identified as regulator of fibroblast growth factor 23 (FGF23). Proteolytic cleavage of biologically active intact FGF23 (iFGF23) results in the formation of C-terminal fragments (cFGF23). ...
  • Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center 
    Kleinendorst, Lotte; Abawi, Ozair; van der Voorn, Bibian; Jongejan, Mieke H.T.M.; Brandsma, Annelies E.; Visser, Jenny A.; van Rossum, Elisabeth F.C.; van der Zwaag, Bert; Alders, Mariëlle; Boon, Elles M.J.; van Haelst, Mieke M.; van den Akker, Erica L.T. (Public Library of Science, 2020-05)
    BACKGROUND: Underlying medical causes of obesity (endocrine disorders, genetic obesity disorders, cerebral or medication-induced obesities) are thought to be rare. Even in specialized pediatric endocrinology clinics, low ...
  • Peripersonal and extrapersonal visuospatial neglect in different frames of reference: A brain lesion-symptom mapping study 
    Ten Brink, Antonia F.; Biesbroek, J. Matthijs; Oort, Quirien; Visser-Meily, Johanna M.A.; Nijboer, Tanja C.W. (Elsevier, 2019-01-01)
    Introduction: Visuospatial neglect can occur in peripersonal and extrapersonal space. The dorsal visual pathway is hypothesized to be associated with peripersonal, and the ventral pathway with extrapersonal neglect. We ...
  • A proposal for new diagnostic criteria for ALS 
    Shefner, Jeremy M; Al-Chalabi, Ammar; Baker, Mark R; Cui, Li-Ying; de Carvalho, Mamede; Eisen, Andrew; Grosskreutz, Julian; Hardiman, Orla; Henderson, Robert; Manuel Matamala, Jose; Mitsumoto, Hiroshi; Paulus, Walter; Simon, Neil; Swash, Michael; Talbot, Kevin; Turner, Martin R; Ugawa, Yoshikazu; van den Berg, Leonard H; Verdugo, Renato; Vucic, Steven; Kaji, Ryuji; Burke, David; Kiernan, Matthew C (Elsevier Ireland Ltd, 2020-08)
  • Progression of cognitive and behavioural impairment in early amyotrophic lateral sclerosis 
    Beeldman, Emma; Govaarts, Rosanne; de Visser, Marianne; Klein Twennaar, Michelle; van der Kooi, Anneke J; van den Berg, Leonard H; Veldink, Jan H; Pijnenburg, Yolande A L; de Haan, Rob J; Schmand, Ben A; Raaphorst, Joost (BMJ Publishing Group, 2020-07)
  • Blended psychosocial support for partners of patients with ALS and PMA: results of a randomized controlled trial 
    De Wit, Jessica; Beelen, Anita; Drossaert, Constance H C; Kolijn, Ruud; Van Den Berg, Leonard H; SchrÖder, Carin D; Visser-Meily, Johanna M A (Informa Healthcare, 2020-08)
    Objective: To evaluate whether a blended (face-to-face and online) psychosocial support program for caregivers of patients with Amyotrophic Lateral Sclerosis (ALS) and Progressive Muscular Atrophy (PMA), aimed at enhancing ...
  • Multimodal longitudinal study of structural brain involvement in amyotrophic lateral sclerosis 
    van der Burgh, Hannelore K; Westeneng, Henk-Jan; Walhout, Renée; van Veenhuijzen, Kevin; Tan, Harold H G; Meier, Jil M; Bakker, Leonhard A; Hendrikse, Jeroen; van Es, Michael A; Veldink, Jan H; van den Heuvel, Martijn P; van den Berg, Leonard H (Lippincott Williams & Wilkins, 2020-06-16)
    OBJECTIVE: To understand the progressive nature of amyotrophic lateral sclerosis (ALS) by investigating differential brain patterns of gray and white matter involvement in clinically or genetically defined subgroups of ...
  • Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion 
    De Vocht, Joke; Blommaert, Jeroen; Devrome, Martijn; Radwan, Ahmed; Van Weehaeghe, Donatienne; De Schaepdryver, Maxim; Ceccarini, Jenny; Rezaei, Ahmadreza; Schramm, Georg; van Aalst, June; Chiò, Adriano; Pagani, Marco; Stam, Daphne; Van Esch, Hilde; Lamaire, Nikita; Verhaegen, Marianne; Mertens, Nathalie; Poesen, Koen; van den Berg, Leonard H; van Es, Michael A; Vandenberghe, Rik; Vandenbulcke, Mathieu; Van den Stock, Jan; Koole, Michel; Dupont, Patrick; Van Laere, Koen; Van Damme, Philip (American Medical Association, 2020-08-01)
    Importance: During a time with the potential for novel treatment strategies, early detection of disease manifestations at an individual level in presymptomatic carriers of a hexanucleotide repeat expansion in the C9orf72 ...
  • Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome 
    Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L; Mazzanti, Andrea; Beckmann, Britt M; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; Christiansen, Michael; Winbo, Annika; Jabbari, Reza; Lubitz, Steven A; Steinfurt, Johannes; Rudic, Boris; Loeys, Bart; Shoemaker, M Ben; Weeke, Peter E; Pfeiffer, Ryan; Davies, Brianna; Andorin, Antoine; Hofman, Nynke; Dagradi, Federica; Pedrazzini, Matteo; Tester, David J; Bos, J Martijn; Sarquella-Brugada, Georgia; Campuzano, Óscar; Platonov, Pyotr G; Stallmeyer, Birgit; Zumhagen, Sven; Nannenberg, Eline A; Veldink, Jan H; van den Berg, Leonard H; Al-Chalabi, Ammar; Shaw, Christopher E; Shaw, Pamela J; Morrison, Karen E; Andersen, Peter M; Müller-Nurasyid, Martina; Cusi, Daniele; Barlassina, Cristina; Galan, Pilar; Lathrop, Mark; Munter, Markus; Werge, Thomas; Ribasés, Marta; Aung, Tin; Khor, Chiea C; Ozaki, Mineo; Lichtner, Peter; Meitinger, Thomas; van Tintelen, J Peter; Hoedemaekers, Yvonne; Denjoy, Isabelle; Leenhardt, Antoine; Napolitano, Carlo; Shimizu, Wataru; Schott, Jean-Jacques; Gourraud, Jean-Baptiste; Makiyama, Takeru; Ohno, Seiko; Itoh, Hideki; Krahn, Andrew D; Antzelevitch, Charles; Roden, Dan M; Saenen, Johan; Borggrefe, Martin; Odening, Katja E; Ellinor, Patrick T; Tfelt-Hansen, Jacob; Skinner, Jonathan R; van den Berg, Maarten P; Olesen, Morten Salling; Brugada, Josep; Brugada, Ramón; Makita, Naomasa; Breckpot, Jeroen; Yoshinaga, Masao; Behr, Elijah R; Rydberg, Annika; Aiba, Takeshi; Kääb, Stefan; Priori, Silvia G; Guicheney, Pascale; Tan, Hanno L; Newton-Cheh, Christopher; Ackerman, Michael J; Schwartz, Peter J; Schulze-Bahr, Eric; Probst, Vincent; Horie, Minoru; Wilde, Arthur A; Tanck, Michael W T; Bezzina, Connie R (Lippincott Williams & Wilkins, 2020-07-28)
    Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands ...
  • Generalized Richardson-Lucy (GRL) for analyzing multi-shell diffusion MRI data 
    Guo, Fenghua; Leemans, Alexander; Viergever, Max A; Dell'Acqua, Flavio; De Luca, Alberto (Academic Press Inc., 2020-09)
    Spherical deconvolution is a widely used approach to quantify the fiber orientation distribution (FOD) from diffusion MRI data of the brain. The damped Richardson-Lucy (dRL) is an algorithm developed to perform robust ...
  • Two-Year Outcome after Laparoscopic Fundoplication in Pediatric Patients with Gastroesophageal Reflux Disease 
    Stellato, Rebecca K; Mulder, Femke V M; Tytgat, Stefaan H A; Oudman, Tycho S; van der Zee, David C; Peppel-Mauritz, Femke A van de; Lindeboom, Maud Y A (Mary Ann Liebert Inc., 2020-07-01)
    Introduction: Many studies on short-term efficacy of laparoscopic antireflux surgery (LARS) have shown good to excellent results on reflux symptom control and health-related quality of life (HRQoL). Prospective studies on ...
  • Cross-omics: Integrating genomics with metabolomics in clinical diagnostics 
    Kerkhofs, Marten H.P.M.; Haijes, Hanneke A.; Marcel Willemsen, A.; Van Gassen, Koen L.I.; Van Der Ham, Maria; Gerrits, Johan; De Sain-Van Der Velden, Monique G.M.; Prinsen, Hubertus C.M.T.; Van Deutekom, Hanneke W.M.; Van Hasselt, Peter M.; Verhoeven-Duif, Nanda M.; Jans, Judith J.M. (Multidisciplinary Digital Publishing Institute, 2020-05-18)
    Next-generation sequencing and next-generation metabolic screening are, independently, increasingly applied in clinical diagnostics of inborn errors of metabolism (IEM). Integrated into a single bioinformatic method, these ...
  • Cerebral microinfarcts affect brain structural network topology in cognitively impaired patients 
    Zhang, Liwen; Biessels, Geert Jan; Hilal, Saima; Chong, Joanna Su Xian; Liu, Siwei; Shim, Hee Youn; Xu, Xin; Chong, Eddie Jun Yi; Wong, Zi Xuen; Loke, Yng Miin; Venketasubramanian, Narayanaswamy; Yeow, Tan Boon; Chen, Christopher Li-Hsian; Zhou, Juan Helen (SAGE Publications Inc., 2021-01)
    Cerebral microinfarcts (CMIs), a novel cerebrovascular marker, are prevalent in Alzheimer’s disease (AD) and associated with cognitive impairment. Nonetheless, the underlying mechanism of how CMIs influence cognition remains ...