Gastroenterology & Hepatology

Research output

Research output per year 1987 1998 2003 2004 2010 2011 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2025

• 370 Article
• 42 Meeting Abstract
• 22 Doctoral thesis 1 (Research UU / Graduation UU)
• 20 Chapter
• 73 More
  • 18 Comment/Letter to the editor
  • 16 Abstract
  • 16 Poster
  • 11 Review article
  • 4 Editorial
  • 3 Web publication/site
  • 1 Book editing
  • 1 Conference contribution
  • 1 Paper
  • 1 Doctoral thesis 3 (Research UU / Graduation NOT UU)
  • 1 Preprint

Research output per year

Research output per year

Search results

• 2025

  Incidence, diagnostics, therapeutic management and outcomes of paediatric intestinal pseudo-obstruction in the Netherlands: A 20-year retrospective cohort study

  Demirok, A., Nagelkerke, S. C. J., Veldt, M., Gorter, R., de Jong, J. R., Damen, G. M., de Koning, B. A. E., Meijer, C., van Rheenen, P. F., Wolters, V. M., Benninga, M. A. & Tabbers, M. M., Jan 2025, In: Journal of Pediatric Gastroenterology and Nutrition. 80, 1, p. 34-45 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Pediatrics 100%
  • Diagnosis 100%
  • Retrospective Cohort Study 100%
  • Therapeutic Management 100%
  • Intestinal Pseudoobstruction 100%
  1 Downloads (Pure)

• TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes

  Shojaei Jeshvaghani, Z., Mijnders, M., Muffels, I., van Beekhuizen, S., Kotlarz, D., Lindemans, C. A., Koletzko, S., Klein, C., Mokry, M., Nieuwenhuis, E. & Kuijk, E., 15 Feb 2025, In: Human molecular genetics. 34, 4, p. 313-326 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Missense 100%
  • TPR Domain 100%
  • RNA 18%
  • Immunity 9%
  • Gene Expression Profiling 9%
• 2024

  Cerebrospinal fluid inflammatory markers to differentiate between neonatal bacterial meningitis and sepsis: A prospective study of diagnostic accuracy

  Groeneveld, N. S., Olie, S. E., Visser, D. H., Snoek, L., van de Beek, D., Brouwer, M. C., Bijlsma, M. W. & NOGBS study group:, May 2024, In: International Journal of Infectious Diseases. 142, 106970.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Prospective Study 100%
  • Diagnostic Accuracy 100%
  • Cerebrospinal Fluid 100%
  • Sepsis 100%
  • Meningitis 100%

• Efficacy and safety of odevixibat in patients with Alagille syndrome (ASSERT): a phase 3, double-blind, randomised, placebo-controlled trial

  Ovchinsky, N., Aumar, M., Baker, A., Baumann, U., Bufler, P., Cananzi, M., Czubkowski, P., Durmaz, Ö., Fischer, R., Indolfi, G., Karnsakul, W. W., Lacaille, F., Lee, W. S., Maggiore, G., Rosenthal, P., Ruiz, M., Sokal, E., Sturm, E., van der Woerd, W. & Verkade, H. J. & 7 others, Wehrman, A., Clemson, C., Yu, Q., Ni, Q., Ruvido, J., Manganaro, S. & Mattsson, J. P., Jul 2024, In: The Lancet Gastroenterology and Hepatology. 9, 7, p. 632-645 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Placebo 100%
  • Alagille Syndrome 100%
  • Bile Acid 42%
  • Least Square Analysis 28%
  • Pruritus 21%
  1 Downloads (Pure)

• Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA

  Global ALagille Alliance (GALA) Study Group, 1 Jun 2024, In: Hepatology (Baltimore, Md.). 79, 6, p. 1279-1292 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Maralixibat 100%

• Genetic landscape of pediatric acute liver failure of indeterminate origin

  Lenz, D., Schlieben, L. D., Shimura, M., Bianzano, A., Smirnov, D., Kopajtich, R., Berutti, R., Adam, R., Aldrian, D., Baric, I., Baumann, U., Bozbulut, N. E., Brugger, M., Brunet, T., Bufler, P., Burnytė, B., Calvo, P. L., Crushell, E., Dalgıç, B. & Das, A. M. & 75 others, Dezsőfi, A., Distelmaier, F., Fichtner, A., Freisinger, P., Garbade, S. F., Gaspar, H., Goujon, L., Hadzic, N., Hartleif, S., Hegen, B., Hempel, M., Henning, S., Hoerning, A., Houwen, R., Hughes, J., Iorio, R., Iwanicka-Pronicka, K., Jankofsky, M., Junge, N., Kanavaki, I., Kansu, A., Kaspar, S., Kathemann, S., Kelly, D., Kırsaçlıoğlu, C. T., Knoppke, B., Kohl, M., Kölbel, H., Kölker, S., Konstantopoulou, V., Krylova, T., Kuloğlu, Z., Kuster, A., Laass, M. W., Lainka, E., Lurz, E., Mandel, H., Mayerhanser, K., Mayr, J. A., McKiernan, P., McLean, P., McLin, V., Mention, K., Müller, H., Pasquier, L., Pavlov, M., Pechatnikova, N., Peters, B., Petković Ramadža, D., Piekutowska-Abramczuk, D., Pilic, D., Rajwal, S., Rock, N., Roetig, A., Santer, R., Schenk, W., Semenova, N., Sokollik, C., Sturm, E., Taylor, R. W., Tschiedel, E., Urbonas, V., Urreizti, R., Vermehren, J., Vockley, J., Vogel, G.-F., Wagner, M., van der Woerd, W., Wortmann, S. B., Zakharova, E., Hoffmann, G. F., Meitinger, T., Murayama, K., Staufner, C. & Prokisch, H., 1 May 2024, In: Hepatology (Baltimore, Md.). 79, 5, p. 1075-1087 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Whole Exome Sequencing 100%
  • Liver Transplantation 50%
  • Viral Disease 25%
  • Transfer RNA 25%
  • Genome Sequencing 25%
  2 Downloads (Pure)

• Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations

  Maddirevula, S., Shagrani, M., Ji, A. R., Horne, C. R., Young, S. N., Mather, L. J., Alqahtani, M., McKerlie, C., Wood, G., Potter, P. K., Abdulwahab, F., AlSheddi, T., van der Woerd, W. L., van Gassen, K. L. I., AlBogami, D., Kumar, K., Muhammad Akhtar, A. S., Binomar, H., Almanea, H. & Faqeih, E. & 4 others, Fuchs, S. A., Scott, J. W., Murphy, J. M. & Alkuraya, F. S., Nov 2024, In: Genetics in Medicine. 26, 11, 101231.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Genomics 100%
  • Cilium 100%
  • Candidate Gene 50%
  • Gene Linkage 50%
  • Enzymatic Activity 50%

• Position Paper: fragmented youth healthcare services in the Netherlands endanger treatment of teenage boys with psychiatric disorders

  IJsselhof, R., Hintjens, A., Pelzer, A. & Nieuwenhuis, E., Sept 2024, In: European child & adolescent psychiatry. 33, 9, p. 3287-3292 6 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Coping Behavior 100%
  • Adolescence 100%
  • Coping Strategy 50%
  • Behavioral Disorder 50%
  • Mental Health 50%

• Randomised clinical trial: First-line infliximab biosimilar is cost-effective compared to conventional treatment in paediatric Crohn's disease

  Vuijk, S. A., Jongsma, M. M. E., Hoeven, B. M., Cozijnsen, M. A., van Pieterson, M., de Meij, T. G. J., Norbruis, O. F., Groeneweg, M., Wolters, V. M., van Wering, H., Hummel, T., Stapelbroek, J., van der Feen, C., van Rheenen, P. F., van Wijk, M. P., Teklenburg, S., Rizopoulos, D., Poley, M. J., Escher, J. C. & de Ridder, L., Jun 2024, In: Alimentary Pharmacology and Therapeutics. 59, 12, p. 1510-1520 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Crohn's Disease 100%
  • Infliximab 100%
  • Randomized Clinical Trial 100%
  • Biosimilar Agent 100%
  • Remission 33%

• Rare and severe adverse events in children with inflammatory bowel disease: analysis of data from the PIBD-SETQuality Safety Registry

  van der Woerd, W. L. & PIBD-SETQuality Safety Registry collaborators, Jun 2024, In: The Lancet Child and Adolescent Health. 8, 6, p. 422-432 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Pediatrics 100%
  • Inflammatory Bowel Disease 100%
  • Adverse Event 100%
  • Quality Improvement 100%
  • Thromboembolism 18%
• 2023

  Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

  Muffels, I. J. J., Schene, I. F., Rehmann, H., Massink, M. P. G., van der Wal, M. M., Bauder, C., Labeur, M., Armando, N. G., Lequin, M. H., Houben, M. L., Giltay, J. C., Haitjema, S., Huisman, A., Vansenne, F., Bluvstein, J., Pappas, J., Shailee, L. V., Zarate, Y. A., Mokry, M. & van Haaften, G. W. & 5 others, Nieuwenhuis, E. E. S., Refojo, D., van Wijk, F., Fuchs, S. A. & van Hasselt, P. M., 5 Jan 2023, In: American Journal of Human Genetics. 110, 1, p. 146-160 15 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Intellectual Disability 100%
  • Neddylation 100%
  • Cell Death 66%
  • Fibroblast 66%
  • Genetic Divergence 33%

• Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

  the NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium, Feb 2023, In: JHEP Reports. 5, 2, p. 1-12 100626.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Genotyping 100%
  • Enterohepatic Circulation 100%
  • Bile Salt Export Pump 100%
  • Bile Acid 28%
  • Liver Transplantation 14%
  6 Downloads (Pure)

• Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis

  Thompson, R. J., Artan, R., Baumann, U., Calvo, P. L., Czubkowski, P., Dalgic, B., D'Antiga, L., Di Giorgio, A., Durmaz, Ö., Gonzalès, E., Grammatikopoulos, T., Gupte, G., Hardikar, W., Houwen, R. H. J., Kamath, B. M., Karpen, S. J., Lacaille, F., Lachaux, A., Lainka, E. & Loomes, K. M. & 21 others, Mack, C. L., Mattsson, J. P., McKiernan, P., Ni, Q., Özen, H., Rajwal, S. R., Roquelaure, B., Shteyer, E., Sokal, E., Sokol, R. J., Soufi, N., Sturm, E., Tessier, M. E., van der Woerd, W. L., Verkade, H. J., Vittorio, J. M., Wallefors, T., Warholic, N., Yu, Q., Horn, P. & Kjems, L., Aug 2023, In: JHEP Reports. 5, 8, 100782.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Arm 100%
  • Progressive Familial Intrahepatic Cholestasis 100%
  • Bile Acid 100%
  • Pruritus 66%
  • Adverse Event 50%
  10 Downloads (Pure)

• Meningococcal ACWY conjugate vaccine immunogenicity and safety in adolescents with juvenile idiopathic arthritis and inflammatory bowel disease: A prospective observational cohort study

  Ohm, M., van Straalen, J. W., Zijlstra, M., de Joode-Smink, G., Jasmijn Sellies, A., Swart, J. F., Vastert, S. J., van Montfrans, J. M., Bartels, M., van Royen-Kerkhof, A., Wildenbeest, J. G., Lindemans, C. A., Wolters, V., Wennink, R. A. W., de Boer, J. H., Knol, M. J., Heijstek, M. W., Sanders, E. A. M., Verduyn-Lunel, F. M. & Berbers, G. A. M. & 2 others, Wulffraat, N. M. & Jansen, M. H. A., 7 Jun 2023, In: Vaccine. 41, 25, p. 3782-3789 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Inflammatory Bowel Disease 100%
  • Adolescence 100%
  • Conjugate Vaccine 100%
  • Serotype 100%
  • Juvenile Idiopathic Arthritis 100%

• Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

  The Global ALagille Alliance (GALA) Study Group, 1 Feb 2023, In: Hepatology. 77, 2, p. 512-529 18 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Liver Disease 100%
  • Alagille Syndrome 100%
  • Survival Rate 50%
  • Bilirubin 50%
  • Portal Hypertension 33%
  1 Citation (Scopus)

  2 Downloads (Pure)

• Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study

  Crefcoeur, L., Ferdinandusse, S., van der Crabben, S. N., Dekkers, E., Fuchs, S. A., Huidekoper, H., Janssen, M., Langendonk, J., Maase, R., de Sain, M., Rubio, E., van Spronsen, F. J., Vaz, F. M., Verschoof, R., de Vries, M., Wijburg, F., Visser, G. & Langeveld, M., 27 Nov 2023, In: Journal of Medical Genetics. 60, 12, p. 1177-1185 9 p., jmg-2023-109206.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Neonatal Infant 100%
  • Retrospective Cohort Study 100%
  • Newborn Screening 100%
  • Carnitine Deficiency 100%
  • Carnitine 30%
  4 Downloads (Pure)

• Prognostic factors for multi-organ dysfunction in pediatric oncology patients admitted to the pediatric intensive care unit

  Soeteman, M., Fiocco, M. F., Nijman, J., Bollen, C. W., Marcelis, M. M., Kilsdonk, E., Nieuwenhuis, E. E. S., Kappen, T. H., Tissing, W. J. E. & Wösten-van Asperen, R. M., 12 Jul 2023, In: Frontiers in oncology. 13, 12 p., 1192806.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Childhood Cancer 100%
  • Prognostic Factor 100%
  • Intensive Care 100%
  • Intensive Care Unit 100%
  • Malignant Neoplasm 9%
  3 Downloads (Pure)

• Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4

  Stam, M., Wijngaarde, C. A., Bartels, B., Asselman, F. L., Otto, L. A. M., Habets, L. E., Van Eijk, R. P. A., Middelkoop, B. M., Goedee, H. S., De Groot, J. F., Roes, K. C. B., Schoenmakers, M. A. G. C., Nieuwenhuis, E. E. S., Cuppen, I., Van Den Berg, L. H., Wadman, R. I. & Van Der Pol, W. L., 2023, In: Brain communications. 5, 1, 11 p., fcac324.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Placebo 100%
  • Spinal Muscular Atrophy Type 2 100%
  • Pyridostigmine 100%
  • Motor Performance 40%
  • Adverse Event 30%
  4 Downloads (Pure)

• Self-reported quantity and quality of sleep in children and adolescents with a chronic condition compared to healthy controls

  Biemans, C. F. M., Nijhof, S. L., Gorter, J. W., Stevens, G. J. W. M., van de Putte, E., Hoefnagels, J. W., van den Berg, A., van der Ent, C. K., Dudink, J. & Verschuren, O. W., Jul 2023, In: European Journal of Pediatrics. 182, 7, p. 3139-3146 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Adolescence 100%
  • Quality of Sleep 100%
  • Autoimmune Disease 33%
  • Kidney Disease 33%
  • Propensity-Score Matching 33%
  5 Downloads (Pure)

• The Effect of Genetic HLA Matching on Liver Transplantation Outcome: A Systematic Review and Meta-Analysis

  Kok, G., Ilcken, E. F., Houwen, R. H. J., Lindemans, C. A., Nieuwenhuis, E. E. S., Spierings, E. & Fuchs, S. A., Sept 2023, In: Annals of surgery open : perspectives of surgical history, education, and clinical approaches. 4, 3, p. 1-7 e334.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Systematic Review 100%
  • Liver Transplantation 100%
  • Meta-Analysis 100%
  • Human Leukocyte Antigen 100%
  • Acute Graft Rejection 50%
  5 Downloads (Pure)

• The genome-wide mutational consequences of DNA hypomethylation

  Besselink, N., Keijer, J., Vermeulen, C., Boymans, S., de Ridder, J., van Hoeck, A., Cuppen, E. & Kuijk, E., 27 Apr 2023, In: Scientific Reports. 13, 1, 6874.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • DNA Methylation 100%
  • DNA Hypomethylation 100%
  • Genome Instability 60%
  • DNMT1 40%
  • Genetic Divergence 20%
  4 Downloads (Pure)

• Validation of a modified bedside Pediatric Early Warning System score for detection of clinical deterioration in hospitalized pediatric oncology patients: A prospective cohort study

  Soeteman, M., Kappen, T. H., van Engelen, M., Marcelis, M., Kilsdonk, E., van den Heuvel-Eibrink, M. M., Nieuwenhuis, E. E. S., Tissing, W. J. E., Fiocco, M. & van Asperen, R. M. W., Jan 2023, In: Pediatric Blood and Cancer. 70, 1, e30036.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Childhood Cancer 100%
  • Pediatrics 100%
  • Deterioration 100%
  • Prospective Cohort Study 100%
  • Intensive Care 100%
  2 Citations (Scopus)

  3 Downloads (Pure)
• 2022

  A comprehensive transcriptomic comparison of hepatocyte model systems improves selection of models for experimental use

  Ardisasmita, A. I., Schene, I. F., Joore, I. P., Kok, G., Hendriks, D., Artegiani, B., Mokry, M., Nieuwenhuis, E. E. S. & Fuchs, S. A., 14 Oct 2022, In: Communications biology. 5, 1, 1094.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Hepatocyte 100%
  • Transcriptomics 100%
  • Transcriptome 100%
  • Fibroblast 11%
  • Stem Cell 5%
  10 Downloads (Pure)

• Assessment of human leukocyte antigen matching algorithm PIRCHE-II on liver transplantation outcomes

  Kok, G., Verstegen, M. M., Houwen, R. H., Nieuwenhuis, E. E., Metselaar, H. J., Polak, W. G., van der Laan, L. J., Spierings, E., den Hoed, C. M. & Fuchs, S. A., Aug 2022, In: Liver Transplantation. 28, 8, p. 1356-1366 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Liver Transplantation 100%
  • Human Leukocyte Antigen 100%
  • Epitope 100%
  • Assessment of Humans 100%
  • Graft Failure 50%
  5 Downloads (Pure)

• Common anti-cancer therapies induce somatic mutations in stem cells of healthy tissue

  Kuijk, E., Kranenburg, O., Cuppen, E. & Van Hoeck, A., 7 Oct 2022, In: Nature Communications. 13, 1, p. 1-10 5915.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Stem Cell 100%
  • Adult Stem Cell 100%
  • Somatic Mutation 100%
  • Colon 80%
  • Cancer Cell 40%
  11 Downloads (Pure)

• Different responses to DNA damage determine ageing differences between organs

  Vougioukalaki, M., Demmers, J., Vermeij, W. P., Baar, M., Bruens, S., Magaraki, A., Kuijk, E., Jager, M., Merzouk, S., Brandt, R. M. C., Kouwenberg, J., van Boxtel, R., Cuppen, E., Pothof, J. & Hoeijmakers, J. H. J., Apr 2022, In: Aging Cell. 21, 4, p. 1-18 e13562.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Organoid 100%
  • Intestinal Stem Cell 100%
  • DNA Damage Response 100%
  • Programmed Cell Death 100%
  • Stem Cell 100%
  3 Downloads (Pure)

• Evaluation of exclusive enteral nutrition and corticosteroid induction treatment in new-onset moderate-to-severe luminal paediatric Crohn’s disease

  Jongsma, M. M. E., Vuijk, S. A., Cozijnsen, M. A., van Pieterson, M., Norbruis, O. F., Groeneweg, M., Wolters, V. M., van Wering, H. M., Hojsak, I., Kolho, K. L., van Wijk, M. P., Teklenburg-Roord, S. T. A., de Meij, T. G. J., Escher, J. C. & de Ridder, L., Aug 2022, In: European Journal of Pediatrics. 181, 8, p. 3055-3065 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Pediatrics 100%
  • Crohn's Disease 100%
  • Enteric Feeding 100%
  • Remission 100%
  • Spontaneous Remission 36%

• GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

  van Dooijeweert, B., Kia, S. K., Dahl, N., Fenneteau, O., Leguit, R., Nieuwenhuis, E., van Solinge, W., van Wijk, R., Da Costa, L. & Bartels, M., Mar 2022, In: Genes. 13, 3, p. 1-12 447.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • GATA1 100%
  • Transcription Factor GATA 1 100%
  • Ribosomal Protein 50%
  • Dyserythropoiesis 20%
  • Messenger RNA 12%
  4 Downloads (Pure)

• Mogelijke toepassingen van organoïden in de geneeskunde

  Translated title of the contribution: Possible applications of organoids in medicineMijnders, M., Fuchs, S. A. & Nieuwenhuis, E. E. S., 12 Jan 2022, In: Nederlands Tijdschrift voor Geneeskunde. 166, d6011.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Genetics 100%
  • Genetic Disorder 100%
  • Animal Model 100%
  • Cystic Fibrosis 100%
  • Medicine 100%

• Mutation-specific reporter for optimization and enrichment of prime editing

  Schene, I. F., Joore, I. P., Baijens, J. H. L., Stevelink, R., Kok, G., Shehata, S., Ilcken, E. F., Nieuwenhuis, E. E. S., Bolhuis, D. P., van Rees, R. C. M., Spelier, S. A., van der Doef, H. P. J., Beekman, J. M., Houwen, R. H. J., Nieuwenhuis, E. E. S. & Fuchs, S. A., 1 Mar 2022, In: Nature Communications. 13, 1, 1028.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Genomics 100%
  • Cell Cycle 33%
  • Plasmid 33%
  • DNA Repair 33%
  • Genome Editing 33%
  8 Downloads (Pure)

• Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography

  Veenvliet, A. R. J., Garrelfs, M. R., Udink Ten Cate, F. E. A., Ferdinandusse, S., Denis, S., Fuchs, S. A., Schwantje, M., Geurtzen, R., van Wegberg, A. M. J., Huigen, M. C. D. G., Kluijtmans, L. A. J., Wanders, R. J. A., Derks, T. G. J., de Boer, L., Houtkooper, R. H., de Vries, M. C. & van Karnebeek, C. D. M., Jun 2022, In: Molecular Genetics and Metabolism Reports. 31, 100873.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Thiolase 100%
  • Acyl-CoA 85%
  • Beta Oxidation 42%
  • Heart Function 28%
  • Fibroblast 28%
  7 Downloads (Pure)

• Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial

  Thompson, R. J., Arnell, H., Artan, R., Baumann, U., Calvo, P. L., Czubkowski, P., Dalgic, B., D'Antiga, L., Durmaz, Ö., Fischler, B., Gonzalès, E., Grammatikopoulos, T., Gupte, G., Hardikar, W., Houwen, R. H. J., Kamath, B. M., Karpen, S. J., Kjems, L., Lacaille, F. & Lachaux, A. & 14 others, Lainka, E., Mack, C. L., Mattsson, J. P., McKiernan, P., Özen, H., Rajwal, S. R., Roquelaure, B., Shagrani, M., Shteyer, E., Soufi, N., Sturm, E., Tessier, M. E., Verkade, H. J. & Horn, P., Sept 2022, In: The Lancet Gastroenterology and Hepatology. 7, 9, p. 830-842 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Placebo 100%
  • Progressive Familial Intrahepatic Cholestasis 100%
  • Intrahepatic Cholestasis 100%
  • Bile Acid 54%
  • Pruritus 27%
  3 Downloads (Pure)

• Radiological Screening Methods in Deceased Organ Donation: An Overview of Guidelines Worldwide

  Chotkan, K. A., Mensink, J. W., Pol, R. A., Van Der Kaaij, N. P., Beenen, L. F. M., Nijboer, W. N., Schaefer, B., Alwayn, I. P. J. & Braat, A. E., 19 May 2022, In: Transplant International. 35, 10289.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Screening 100%
  • Computer Assisted Tomography 100%
  • Abdominal Imaging 33%
  • Chest Radiograph 33%
  • Chest 33%
  7 Downloads (Pure)

• Recurrent exon-deleting activating mutations in AHR act as drivers of urinary tract cancer

  Vlaar, J. M., Borgman, A., Kalkhoven, E., Westland, D., Besselink, N., Shale, C., Faltas, B. M., Priestley, P., Kuijk, E. & Cuppen, E., 16 Jun 2022, In: Scientific Reports. 12, 1, p. 1-12 10081.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Upregulation 100%
  • Exon 100%
  • Urinary Tract 100%
  • Transcription Factor 50%
  • Genetics 50%
  18 Downloads (Pure)

• Safety of Thioguanine in Pediatric Inflammatory Bowel Disease: A Multi-Center Case Series

  Bayoumy, A. B., Jagt, J. Z., Van Wering, H. M., De Ridder, L., Hummel, T., Wolters, V. M., Stapelbroek, J., Benninga, M. A., Mulder, C. J. J., De Boer, N. K. H. & De Meij, T. G. J., 1 Dec 2022, In: Journal of Pediatric Gastroenterology and Nutrition. 75, 6, p. E111-E115

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Pediatrics 100%
  • Inflammatory Bowel Disease 100%
  • Tioguanine 100%
  • Pancreatitis 44%
  • Adverse Event 33%
  5 Downloads (Pure)

• The incidence and characteristics of venous thromboembolisms in paediatric-onset inflammatory bowel disease; a prospective international cohort study based on the PIBD-SETQuality Safety Registry

  Aardoom, M. A., Klomberg, R. C. W., Kemos, P., Ruemmele, F. M., van Ommen, H., de Ridder, L., Croft, N. M., 1 May 2022, In: Journal of Crohn's & Colitis. 16, 5, p. 695-707 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Patient Coding 100%
  • Phlebothrombosis 100%
  • Cohort Study 100%
  • Awareness 100%
  • Clinical Classification 100%
  2 Downloads (Pure)

• The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

  Lehmann, V., Schene, I. F., Ardisasmita, A. I., Liv, N., Veenendaal, T., Klumperman, J., van der Doef, H. P. J., Verkade, H. J., Verstegen, M. M. A., van der Laan, L. J. W., Jans, J. J. M., Verhoeven-Duif, N. M., van Hasselt, P. M., Nieuwenhuis, E. E. S., Spee, B. & Fuchs, S. A., Mar 2022, In: Journal of Inherited Metabolic Disease. 45, 2, p. 353-365 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Inborn Error of Metabolism 100%
  • Cholangiocyte 100%
  • Metabolic Pathway 25%
  • Metabolite 12%
  • Cystic Fibrosis 12%
  4 Downloads (Pure)

• Transfusion burden in early childhood plays an important role in iron overload in Diamond-Blackfan anaemia

  de Wilde, J. R. A., van Dooijeweert, B., van Vuren, A. J., Huisman, E. J., Smiers, F. J., van der Veer, A., van Wijk, R., van Solinge, W. W., Nieuwenhuis, E. E. S., van Beers, E. J. & Bartels, M., Nov 2022, In: EJHaem. 3, 4, p. 1300-1304 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Iron Poisoning 100%
  • Iron Overload 100%
  • Diamond-Blackfan Anemia 100%
  • Ferritin 40%
  • Magnetic Resonance Imaging 20%
• 2021

  A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations

  van Vugt, A. H. M., Bijvelds, M. J. C., de Jonge, H. R., Meijsen, K. F., Restin, T., Bryant, M. B., Ballauff, A., Koot, B., Müller, T., Houwen, R. H. J., Janecke, A. R. & Middendorp, S., 18 Nov 2021, In: Clinical and translational gastroenterology. 12, 11, p. 1-4 e00427.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Guanylate Cyclase 100%
  • Cyclic GMP 50%
  • Enterotoxin 25%
  • Heat-Stable Enterotoxin 25%
  6 Downloads (Pure)

• Correlates of Fatigability in Patients With Spinal Muscular Atrophy

  Bartels, B., de Groot, J. F., Habets, L. E., Wadman, R. I., Asselman, F. L., Nieuwenhuis, E. E. S., van Eijk, R. P. A., Goedee, H. S. & van der Pol, W. L., 9 Feb 2021, In: Neurology. 96, 6, p. e845-e852

  Research output: Contribution to journal › Article › Academic › peer-review

  • Motor Performance 100%
  • Spinal Muscular Atrophy 100%
  • Muscle Strength 60%
  • Neuromuscular Junction 60%
  • Medical Research 40%

• Co-Translational Folding of the First Transmembrane Domain of ABC-Transporter CFTR is Supported by Assembly with the First Cytosolic Domain

  Kleizen, B., van Willigen, M., Mijnders, M., Peters, F., Grudniewska, M., Hillenaar, T., Thomas, A., Kooijman, L., Peters, K. W., Frizzell, R., van der Sluijs, P. & Braakman, I., 25 Jun 2021, In: Journal of Molecular Biology. 433, 13, p. 1-24 166955.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Periodicity 100%
  6 Downloads (Pure)

• Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease

  Collins, C. J., Yi, F., Dayuha, R., Duong, P., Horslen, S., Camarata, M., Coskun, A. K., Houwen, R. H. J., Pop, T. L., Zoller, H., Yoo, H. W., Jung, S. W., Weiss, K. H., Schilsky, M. L., Ferenci, P. & Hahn, S. H., Jun 2021, In: Gastroenterology. 160, 7, p. 2367-2382.e1

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Ferroxidase 100%
  • Wilson Disease Protein 100%
  • Wilson's Disease 100%
  • Mass Spectrometry 50%
  • Antibody Affinity 50%
  7 Citations (Scopus)

  2 Downloads (Pure)

• Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia

  van Dooijeweert, B., Broeks, M. H., van Beers, E. J., Verhoeven-Duif, N. M., van Solinge, W. W., Nieuwenhuis, E. E. S., Jans, J. J., van Wijk, R. & Bartels, M., Jun 2021, In: British Journal of Haematology. 193, 6, p. 1185-1193 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Dried Blood Spot 100%
  • Metabolomics 100%
  • Diamond-Blackfan Anemia 100%
  • Screening Test 14%
  • Metabolite 14%
  8 Downloads (Pure)

• Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis

  Haisma, S. M., Weersma, R. K., Joosse, M. E., de Koning, B. A. E., de Meij, T., Koot, B. G. P., Wolters, V., Norbruis, O., Daly, M. J., Stevens, C., Xavier, R. J., Koskela, J., Rivas, M. A., Visschedijk, M. C., Verkade, H. J., Barbieri, R., Jansen, D. B. H., Festen, E. A. M., van Rheenen, P. F. & van Diemen, C. C., May 2021, In: Liver International. 41, 5, p. 1044-1057 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Candidate Gene 100%
  • Exome Sequencing 100%
  • Genetic Divergence 50%
  • Gene Function 50%
  • Innate Immunity 25%
  5 Downloads (Pure)

• Identifying the critically ill paediatric oncology patient: a study protocol for a prospective observational cohort study for validation of a modified Bedside Paediatric Early Warning System score in hospitalised paediatric oncology patients

  Soeteman, M., Kappen, T. H., van Engelen, M., Kilsdonk, E., Koomen, E., Nieuwenhuis, E. E. S., Tissing, W. J. E., Fiocco, M., van den Heuvel-Eibrink, M. & Wösten-van Asperen, R. M., 19 May 2021, In: BMJ Open. 11, 5, 8 p., e046360.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • International Classification of Diseases for Oncology 100%
  3 Downloads (Pure)

• Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

  Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium, Aug 2021, In: Hepatology. 74, 2, p. 892-906 15 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Genotyping 100%
  • Bile Acid Blood Level 100%
  • Intrahepatic Cholestasis 100%
  • Bile Acid 100%
  • Phospholipid 50%
  1 Citation (Scopus)

  6 Downloads (Pure)

• Infliximab Level Between Venous and Capillary Blood Using Novel Device Strongly Correlate in Paediatric Inflammatory Bowel Disease Patients

  Zijlstra, M., Jongsma, M. M. E., de Vries, A., Schaap, T., Bloem, K. & de Ridder, L., 1 Jan 2021, In: Journal of Pediatric Gastroenterology and Nutrition. 72, 1, p. 56-60 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • Inflammatory Bowel Disease 100%
  • Capillary 100%
  • Infliximab 100%
  • Blood Level 40%
  • Blood Sampling 40%

• Influence of allopurinol on thiopurine associated toxicity: A retrospective population-based cohort study

  Houwen, J. P. A., Egberts, A. C. G., de Boer, A., van Maarseveen, E. M., Houwen, R. H. J. & Lalmohamed, A., May 2021, In: British Journal of Clinical Pharmacology. 87, 5, p. 2333-2340 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Allopurinol 100%
  • Cohort Study 100%
  • Mercaptopurine 100%
  • Hepatotoxicity 36%
  • Bone Marrow Toxicity 27%
  5 Downloads (Pure)

• Metabolic fingerprint in hereditary spherocytosis correlates with red blood cell characteristics and clinical severity

  Van Dooijeweert, B., Broeks, M. H., Verhoeven-Duif, N. M., Van Solinge, W. W., Van Beers, E. J., Rab, M. A. E., Nieuwenhuis, E. E. S., Jans, J. J. M., Bartels, M. & Van Wijk, R., Jul 2021, In: HemaSphere. 5, 7, p. 1-4 e591.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File
  3 Downloads (Pure)

• Novel Orally Formulated Mixed Micelles Optimize Vitamin K Absorption Under Bile-Deficient Conditions

  Rooimans, T., Minderhoud, T., Leal, N., Vromans, H., van Nostrum, C., van Hasselt, P., Rodriguez, M., Sun, F., Oussoren, C., Slot, T. K., van der Ham, M., Janssens, G. E. P. J., de Sain-van der Velden, M. G. M., Houwen, R. H. J., de Koning, T. J., Hennink, W. E. & Lipophilic Drug Delivery Despite Cholestasis Study Group, Sept 2021, In: Gastroenterology. 161, 3, p. 1056-1059.e5

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File
  8 Downloads (Pure)