Research Output

Comment/Letter to the editor

Development of Nationwide Recommendations to Support Prenatal Counseling in Extreme Prematurity

Geurtzen, R., Van Heijst, A. F. J., Draaisma, J. M. T., Kuijpers, L. J. M. K., Woiski, M., Scheepers, H. C. J., Van Kaam, A. H., Oudijk, M. A., Lafeber, H. N., Bax, C. J., Koper, J. F., Duin, L. K., Van Der Hoeven, M. A., Kornelisse, R. F., Duvekot, J. J., Andriessen, P., Van Runnard Heimel, P. J., Van Der Heide-Jalving, M., Bekker, M. N., Mulder-De Tollenaer, S. M. & 5 others, Van Eyck, J., Eshuis-Peters, E., Graatsma, M., Hermens, R. P. M. G. & Hogeveen, M., 1 Nov 2019, In : Obstetrical and Gynecological Survey. 74, 11, p. 639-641 3 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Do We Really Know How to Use High-Frequency Oscillatory Ventilation in Critically Ill Children?

Kneyber, M. C. J. & Markhorst, D. G., 2016, In : American Journal of Respiratory and Critical Care Medicine. 193, p. 1068 1 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

Erratum: Magnetic resonance imaging pattern recognition in hypomyelinating disorders (Brain (2010) 133 (2971-2982) DOI:10.1093/brain/awq257)

Steenweg, M. E., Vanderver, A., Blaser, S., Bizzi, A., De Koning, T. J., Mancini, G. M. S., Van Wieringen, W. N., Barkhof, F., Wolf, N. I. & Van Der Knaap, M. S., 1 Jan 2013, In : Brain. 136, 9, 1 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Erratum: Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))

Sanna-Cherchi, S., Khan, K., Westland, R., Krithivasan, P., Fievet, L., Rasouly, H. M., Ionita-Laza, I., Capone, V. P., Fasel, D. A., Kiryluk, K., Kamalakaran, S., Bodria, M., Otto, E. A., Sampson, M. G., Gillies, C. E., Vega-Warner, V., Vukojevic, K., Pediaditakis, I., Makar, G. S., Mitrotti, A. & 29 others, Verbitsky, M., Martino, J., Liu, Q., Na, Y. J., Goj, V., Ardissino, G., Gigante, M., Gesualdo, L., Janezcko, M., Zaniew, M., Mendelsohn, C. L., Shril, S., Hildebrandt, F., van Wijk, J. A. E., Arapovic, A., Saraga, M., Allegri, L., Izzi, C., Scolari, F., Tasic, V., Ghiggeri, G. M., Latos-Bielenska, A., Materna-Kiryluk, A., Mane, S., Goldstein, D. B., Lifton, R. P., Katsanis, N., Davis, E. E. & Gharavi, A. G., 7 Dec 2017, In : American journal of human genetics. 101, 6, p. 1034 1 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Erratum: Melanocortin-4 receptor gene mutations in a dutch cohort of obese children (Obesity 19 (604-611) DOI:10.1038/oby.2010.259)

Van Den Berg, L., Van Beekum, O., Heutink, P., Felius, B. A., Van De Heijning, M. P. M., Strijbis, S., Van Spaendonk, R., Piancatelli, D., Garner, K. M., El Aouad, R., Sistermans, E., Adan, R. A. H. & Delemarre-Van De Waal, H. A., 1 Jun 2011, In : Obesity. 19, 6, 1 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Erratum: CRTAP mutations in lethal and severe osteogenesis imperfecta: The importance of combining biochemical and molecular genetic analysis (European Journal of Human Genetics (2009) vol. 17 1560-1569 10.1038/ ejhg.2009.75))

Van Dijk, F. S., Nesbitt, I. M., Nikkels, P. G. J., Dalton, A., Bongers, E. M. H. F., van de Kamp, J. M., Hilhorst-Hofstee, Y., Den Hollander, N. S., Lachmeijer, A. M. A., Marcelis, C. L., Tan-Sindhunata, G. M. B., van Rijn, R. R., Meijers-Heijboer, H., Cobben, J. M. & Pals, G., 27 Nov 2009, In : European Journal of Human Genetics. 17, 12, 1 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Erratum: Risk Factors for Dystonia after Selective Dorsal Rhizotomy in Nonwalking Children and Adolescents with Bilateral Spasticity

van de Pol, L. A., Vermeulen, J. R., van 't Westende, C., van Schie, P. E. M., Bolster, E. A. M., van Ouwerkerk, P. W. J. R., Strijers, R. L., Becher, J. G., Stadhouder, A., de Graaf, P. & Buizer, A. I., Feb 2018, In : Neuropediatrics. 49, 1, p. E1-E1

Research output: Contribution to journalComment/Letter to the editorAcademic

Erratum to: START NOW - a comprehensive skills training programme for female adolescents with oppositional defiant and conduct disorders: Study protocol for a clusterrandomised controlled trial [BMC Trials. 17, (2016)(568)] DOI: 10.1186/s13063-016-1705-6

Kersten, L., Prätzlich, M., Mannstadt, S., Ackermann, K., Kohls, G., Oldenhof, H., Saure, D., Krieger, K., Herpertz-Dahlmann, B., Popma, A., Freitag, C. M., Trestman, R. L. & Stadler, C., 2 Mar 2017, In : Trials. 18, 1, 95.

Research output: Contribution to journalComment/Letter to the editorAcademic

Falsely elevated plasma testosterone concentrations in neonates: Importance of LC-MS/MS measurements

Hamer, H. M., Finken, M. J. J., van Herwaarden, A. E., du Toit, T., Swart, A. C. & Heijboer, A. C., 2018, In : Clinical Chemistry and Laboratory Medicine. 56, 6, p. e141-e143

Research output: Contribution to journalComment/Letter to the editorAcademic

Gingival Hyperplasia as a Presenting Symptom of Crohn's Disease in a Teenager

Hoogenes, N., Kommers, S. C., de Boer, K. H. N., Görts, A. L., Schulten, E. A. J. M. & de Meij, T. G. J., 2018, In : American Journal of Gastroenterology. 113, 4, p. 462

Research output: Contribution to journalComment/Letter to the editorAcademic

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. Reply

van Kuilenburg, A. B. P., Usdin, K. & van Karnebeek, C. D. M., 19 Sep 2019, In : The New England journal of medicine. 381, 12, p. 1185

Research output: Contribution to journalComment/Letter to the editorAcademic

Groeirestrictie in 1e zwangerschapstrimester geeft al bij kinderen risicofactoren op hart- en vaatziekten

Translated title of the contribution: Growth restriction in 1st trimester of pregnancy indicates cardiovascular risk factors in childrenVan Weissenbruch, M., 2014, In : Nederlands Tijdschrift voor Geneeskunde. 158, 17

Research output: Contribution to journalComment/Letter to the editorProfessional

Initial presentation with dengue infection masking the diagnosis of acute lymphoblastic leukemia

Kooijmans, E. C. M. & Raphael, M. F., 2019, In : Pediatric Blood and Cancer. 66, 6, e27632.

Research output: Contribution to journalComment/Letter to the editorAcademic

INSAR Special Interest Group Report: Stakeholder Perspectives on Priorities for Future Research on Autism, Sexuality, and Intimate Relationships

Dewinter, J., van der Miesen, A. I. R. & Holmes, L. G., 1 Jan 2020, (Accepted/In press) In : Autism Research. 13, 8, 10 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

Letter in response to Rosen et al.: An interesting pediatric case of rumination syndrome

Singendonk, M. M. J., Benninga, M. A., van Wijk, M. P., Abu-Assi, R. & Omari, T. I., 2018, In : Neurogastroenterology and Motility. 30, 10, e13452.

Research output: Contribution to journalComment/Letter to the editorAcademic

Leukaemic stem cell load at diagnosis predicts the development of relapse in young acute myeloid leukaemia patients

Hanekamp, D., Denys, B., Kaspers, G. J. L., te Marvelde, J. G., Schuurhuis, G. J., de Haas, V., de Moerloose, B., de Bont, E. S., Zwaan, C. M., de Jong, A., Depreter, B., Lammens, T., Philippé, J., Cloos, J. & van der Velden, V. H. J., 2018, In : British Journal of Haematology. 183, 3, p. 512-516

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

Mimicking own mother's milk for preterms: Are we getting closer?

van Goudoever, J. B. & van den Akker, C. H., 2018, In : Journal of Pediatric Gastroenterology and Nutrition. 66, 1, p. 1-2

Research output: Contribution to journalComment/Letter to the editorAcademic

Need for Further Analysis in Cognitive Outcomes of Children Born Preterm-Reply

Sabrina Twilhaar, E., van Elburg, R. M. & Oosterlaan, J., 2018, In : JAMA Pediatrics. 172, 9, p. 889-890

Research output: Contribution to journalComment/Letter to the editorAcademic

Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy

van der Knaap, M. S. & Abbink, T. E. M., 2018, In : Clinical Neurology and Neurosurgery. 171, p. 195

Research output: Contribution to journalComment/Letter to the editorAcademic

Paediatric Coeliac Disease: Increasing Incidence or Increased Awareness?

van Kalleveen, M. W., de Meij, T. & Plötz, F. B., 2018, In : Journal of Pediatric Gastroenterology and Nutrition. 67, 2, p. e42

Research output: Contribution to journalComment/Letter to the editorAcademic

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot

Simons, C., Dyment, D., van der Knaap, M. S. & Wolf, N. I., 2018, In : Brain. 141, 5, p. e37

Research output: Contribution to journalComment/Letter to the editorAcademic

Revival of an ancient Greek art: scent detection as diagnostic tool for tuberculosis

Berkhout, D. J. C., Benninga, M. A., de Boer, N. K. H. & de Meij, T. G., 2018, In : Pediatric Research. 84, 1, p. 4-5

Research output: Contribution to journalComment/Letter to the editorAcademic

Single Sampling Versus Multiple Testing Strategy to Assess Gut Microbiota Composition: Does It Matter?

de Meij, T. G. J. & Budding, A. E., 15 Sep 2019, In : Current Microbiology. 76, 9, p. 1081

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

Te vroeg voor farmacogenetica in de psychiatrische praktijk? Implementatie is volop gaande

van Westrhenen, R., Bet, P. M., van Weelden, M. & van Schaik, R. H. N., 2019, In : Tijdschrift voor Psychiatrie. 61, 10, p. 678-680

Research output: Contribution to journalComment/Letter to the editorProfessional

The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia

Shoemark, A., Rubbo, B., Haarman, E., Hirst, R. A., Hogg, C., Jackson, C. L., Nielsen, K. G., Papon, J-F., Robinson, P., Walker, W. T. & Lucas, J. S., 2020, In : American Journal of Respiratory and Critical Care Medicine. 201, 1, p. 120-122 3 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

Umbilical Vein Catheter Protruding Through a Pulmonary Vein in a Patient with an Infracardiac Type Total Abnormal Pulmonary Venous Drainage

Bruyndonckx, L., Kroft, L. J. M., Bekker, V., Roest, A. A. W. & van der Palen, R. L. F., 15 Apr 2019, In : Pediatric Cardiology. 40, p. 878–879

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

Ventricular Response to Dobutamine Stress CMR Is a Predictor for Outcome in Fontan Patients

van den Bosch, E., Bossers, S. S. M., Robbers-Visser, D., Boersma, E., Roos-Hesselink, J. W., Breur, H. M. P. J., Blom, N. A., Kroft, L. J. M., Snoeren, M. M., Kapusta, L. & Helbing, W. A., 1 Feb 2019, In : JACC: Cardiovascular Imaging. 12, 2, p. 368-370

Research output: Contribution to journalComment/Letter to the editorAcademic

Chapter

2-hydroxyglutaric aciduria

Struys, EA., van der Knaap, MS. & Salomons, GS., 18 Aug 2016, Inherited Metabolic Disease in Adults: A Clinical Guide. Hollak, CEM. & Lachmann, R. (eds.). Oxford University Press, Chapter 22

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Aanvullend onderzoek

Kneepkens, C. M. F., Verbeke, J. I. M. L. & Dinant, G. J., 2012, Kindergeneeskunde. Houten: Bohn Stafleu van Loghum, p. 41-55

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

A Child with Local Lipohypertrophy following Recombinant Human Growth Hormone Administration

Koppen, I. J., Bakx, R., de Kruiff, C. C. & van Trotsenburg, A. S., 2016, Case Rep Pediatr. 2016/11/03 ed. p. 9648043 1 p. (Case Rep Pediatr; vol. 2016).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Acute myeloide leukemie bij kinderen

Kaspers, G. J. L., 2008, Handboek hematologie. Utrecht: De Tijdstroom, p. 443-452

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Acute myeloid leukemia

Kaspers, G. J. L. & Reinhardt, D., 2012, Cancer in Children - clinical management. Oxford University Press

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Amino Acids and Proteins

van Goudoever, J. B., Vlaardingerbroek, H., van den Akker, C. H., de Groof, F. & van der Schoor, S. R. D., 2014, Nutritional Care of Preterm Infants: Scientific Basis and Practical Guidelines. p. 49-63 (World Review of nutrition and dietetics; no. 4).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Approach to the patient with neurological disease

Garcia-Cazorla, A., Wolf, N. I. & Hoffmann, G. F., 2010, Inherited Metabolic Diseases: A Clinical Approach. Berlin Heidelberg: Springer Verlag, p. 127-160

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Biologische ontwikkeling

Doreleijers, T. A. H., Crone, E. & Jansen, L., 2010, Psychologie van de adolescentie. Baarn/Utrecht/Zutphen: ThiemeMeulenhoff, p. 39-49

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Buikpijn

Kneepkens, C. M. F. & de Meij, T. G. J., 2009, Somatische problemen. Houten: Bohn Stafleu van Loghum, p. 16-46 (Kinderen en adolescenten - problemen en risicosituaties).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Catheter-related infections in pediatric patients

Fleer, A., Krediet, T. G., Gerards, L. J., Wolfs, T. F. W. & Roord, J. J., 2004, Catheter-Related Infections, Second Edition. CRC Press, p. 515-549 (Catheter-Related Infections, Second Edition).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Cerebellar Development: The impact of Preterm Birth and Comorbidities

Tam, E., Benders, M. & Heine, VM., 12 Jul 2016, Fetal and Neonatal Physiology, 2-Volume Set. Polin, RA., Abman, SH., Rowitch, D. & Benitz, WE. (eds.). 5 ed. Elsevier, p. 1350-1362 Chapter 135

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Cerebrale Parese

Becher, J. G., Gorter, J. W. & Vermeulen, R. J., 2009, Kinderrevalidatie. Van Gorcum Uitgeverij

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Cerebrale parese: hulponderzoek en vroegdiagnostiek

Vermeulen, R. J., 2008, Cerebrale parese. Stand van Zaken en Nieuwe ontwikkelingen.. Nijmegen: PAOG-Heyendaal UMC St. Radboud, p. 68-80

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Cerebral Organic Acidurias

Kolker, S., Struijs, E. A., van der Knaap, M. S. & Jakobs, C. A. J. M., 2014, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Berlin Heidelberg: Springer, p. 143-156

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Child delinquency as seen by children, the police and the justice system

van der Laan, P. H., van Domburgh, L. & Hoeve, M., 2008, Tomorrow's criminals: The development of child delinquency and effective interventions. Farnham: Ashgate Publishing Limited

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

Schiffmann, R., Fogli, A., van der Knaap, M. S. & Boespflug-Tanguy, O., 2010, GeneReviews™ at GeneTests: Medical Genetics information Resource. Seattle (WA), USA: University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Chronische diarree

Kneepkens, C. M. F. & De Wit, N. J., 2012, Kindergeneeskunde. Houten: Bohn Stafleu van Loghum, p. 93-106

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

CLCN2-Related Leukoencephalopathy

Knaap, M., Depienne, C., Sedel, F. & Abbink, T. E. M., 2015, GeneReviews® [internet]. Seattle (WA): University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic