Research Output

2020

Infliximab in young paediatric IBD patients: it is all about the dosing

on behalf of the Paediatric IBD Porto Group of ESPGHAN, 2020, In : European Journal of Pediatrics.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Influence of health insurance status on childhood cancer treatment outcomes in Kenya

Olbara, G., Martijn, H. A., Njuguna, F., Langat, S., Martin, S., Skiles, J., Vik, T., Kaspers, G. J. L. & Mostert, S., 1 Feb 2020, In : Supportive Care in Cancer. 28, 2, p. 917-924 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

Intranasal treatment of vitamin B12 deficiency in children

Estourgie-van Burk, G. F., van der Kuy, P. H. M., de Meij, T. G., Benninga, M. A. & Kneepkens, C. M. F., Feb 2020, In : European Journal of Pediatrics. 179, 2, p. 349-352 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Investigating Sex Differences in Emotion Recognition, Learning, and Regulation Among Youths With Conduct Disorder

Kohls, G., Baumann, S., Gundlach, M., Scharke, W., Bernhard, A., Martinelli, A., Ackermann, K., Kersten, L., Prätzlich, M., Oldenhof, H., Jansen, L., van den Boogaard, L., Smaragdi, A., Gonzalez-Madruga, K., Cornwell, H., Rogers, J. C., Pauli, R., Clanton, R., Baker, R., Bigorra, A. & 19 others, Kerexeta-Lizeaga, I. A., Sesma-Pardo, E., Aguirregomoscorta-Menéndez, F., Siklósi, R. K., Dochnal, R., Kalogerakis, Z., Pirlympou, M., Papadakos, L., Dikeos, D., Hervas, A., Herpertz-Dahlmann, B., Fernández-Rivas, A., Popma, A., Stadler, C., de Brito, S. A., Blair, J. R., Freitag, C. M., Fairchild, G. & Konrad, K., Feb 2020, In : Journal of the American Academy of Child and Adolescent Psychiatry. 59, 2, p. 263-273 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Long-Term Effects of Radioiodine Treatment on Female Fertility in Survivors of Childhood Differentiated Thyroid Carcinoma

Nies, M., Cantineau, A. E. P., Arts, E. G. J. M., van den Berg, M. H., van Leeuwen, F. E., Muller Kobold, A. C., Klein Hesselink, M. S., Burgerhof, J. G. M., Brouwers, A. H., van Dam, E. W. C. M., Havekes, B., van den Heuvel-Eibrink, M. M., Corssmit, E. P. M., Kremer, L. C. M., Netea-Maier, R., van der Pal, H. J. H., Peeters, R. P., Plukker, J. T. M., Ronckers, C. M., van Santen, H. M. & 5 others, van der Horst-Schrivers, A. N. A., Tissing, W. J. E., Bocca, G., van Dulmen-den Broeder, E. & Links, T. P., 20 Feb 2020, In : Thyroid. 30, 8, 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Long-term efficacy of anti-tumor necrosis factor agents in pediatric luminal crohn's disease: A systematic review of real-world evidence studies

Rheenen, H. V. & van Rheenen, P. F., 1 Jan 2020, In : Pediatric Gastroenterology, Hepatology and Nutrition. 23, 2, 121.

Research output: Contribution to journalArticleAcademicpeer-review

Long-Term Stability of Cortisol Production and Metabolism Throughout Adolescence: Longitudinal Twin Study

van Keulen, B. J., Dolan, C. V., Andrew, R., Walker, B. R., Hulshoff Pol, H. E., Boomsma, D. I., Rotteveel, J. & Finken, M. J. J., 25 Mar 2020, In : Twin Research and Human Genetics. 23, 1, p. 1-6 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Lower versus traditional treatment threshold for neonatal hypoglycemia

Van Kempen, A. A. M. W., Eskes, P. F., Nuytemans, D. H. G. M., Van Der Lee, J. H., Dijksman, L. M., Van Veenendaal, N. R., Van Der Hulst, F. J. P. C. M., Moonen, R. M. J., Zimmermann, L. J. I., Van'T Verlaat, E. P., Van Dongen-Van Baal, M., Semmekrot, B. A., Stas, H. G., Van Beek, R. H. T., Vlietman, J. J., Dijk, P. H., Termote, J. U. M., De Jonge, R. C. J., De Mol, A. C., Huysman, M. W. A. & 3 others, Kok, J. H., Offringa, M. & Boluyt, N., 6 Feb 2020, In : New England Journal of Medicine. 382, 6, p. 534-544 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

Beerepoot, S., van Dooren, S. J. M., Salomons, G. S., Boelens, J. J., Jacobs, E. H., van der Knaap, M. S., van Kuilenburg, A. B. P. & Wolf, N. I., 1 Jan 2020, (Accepted/In press) In : Neurogenetics. 21, 4, 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Neural processing of socioemotional content in conduct-disordered juvenile offenders with limited prosocial emotions

Aghajani, M., Klapwijk, E. T., Andershed, H., Fanti, K. A., van der Wee, N. J. A., Vermeiren, R. R. J. M. & Colins, O. F., 2020, In : Progress in Neuro-Psychopharmacology and Biological Psychiatry. 110045.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Neurocognitive predictors of treatment completion and daytime activities at follow-up in multiproblem young adults

van der Sluys, M. E., Zijlmans, J., Popma, A., van der Laan, P. H., Scherder, E. J. A. & Marhe, R., 2020, In : Cognitive, Affective and Behavioral Neuroscience.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Peer support: Onmisbaar in de verbetercyclus na een incident

Heringa, M. P., Tiemersma, A. M. & Erwich, J. J. H. M., 1 Apr 2020, In : Nederlands Tijdschrift voor Geneeskunde. 164, 14, D4480.

Research output: Contribution to journalArticleAcademicpeer-review

Performance of progressive and adaptive COVID-19 exit strategies: a stress test analysis for managing intensive care unit rates

Van Wees, J-D., van der Kuip, M., Osinga, S., van Westerloo, D. J., Verreijdt, P. & Tutu-van Furth, AM., 2020, In : MedRxIv.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Pharmacokinetics of nilotinib in pediatric patients with Philadelphia chromosome–positive chronic myeloid leukemia or acute lymphoblastic leukemia

Hijiya, N., Michel Zwaan, C., Rizzari, C., Foà, R., Abbink, F., Lancaster, D., Landman-Parker, J., Millot, F., Moppett, J., Nelken, B., Putti, M. C., Tian, X., Sinclair, K., Santanastasio, H., Buchbinder, A. & Kearns, P., 15 Feb 2020, In : Clinical Cancer Research. 26, 4, p. 812-820 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Planned hooligan fights: Contributing factors and significance for individuals who take part

van Ham, T., Adang, O. M. J., Ferwerda, H. B., Doreleijers, T. A. H. & Blokland, A. A. J., 1 Jan 2020, (Accepted/In press) In : European Journal of Criminology.

Research output: Contribution to journalArticleAcademicpeer-review

Population pharmacokinetics of vincristine related to infusion duration and peripheral neuropathy in pediatric oncology patients

van de Velde, M. E., Panetta, J. C., Wilhelm, A. J., van den Berg, M. H., van der Sluis, I. M., van den Bos, C., Abbink, F. C. H., van den Heuvel-Eibrink, M. M., Segers, H., Chantrain, C., Bosch, J. V. D. W. T., Willems, L., Evans, W. E. & Kaspers, G. L., Jul 2020, In : Cancers. 12, 7, p. 1-15 15 p., 1789.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Positive and negative parenting in conduct disorder with high versus low levels of callous-unemotional traits

Pauli, R., Tino, P., Rogers, J. C., Baker, R., Clanton, R., Birch, P., Brown, A., Daniel, G., Ferreira, L., Grisley, L., Kohls, G., Baumann, S., Bernhard, A., Martinelli, A., Ackermann, K., Lazaratou, H., Tsiakoulia, F., Bali, P., Oldenhof, H., Jansen, L. & 22 others, Smaragdi, A., Gonzalez-Madruga, K., Gonzalez-Torres, M. A., Gonzalez De Artaza-Lavesa, M., Steppan, M., Vriends, N., Bigorra, A., Siklosi, R., Ghosh, S., Bunte, K., Dochnal, R., Hervas, A., Stadler, C., Fernandez-Rivas, A., Fairchild, G., Popma, A., Dikeos, D., Konrad, K., Herpertz-Dahlmann, B., Freitag, C. M., Rotshtein, P. & De Brito, S. A., 1 Jan 2020, (Accepted/In press) In : Development and Psychopathology.

Research output: Contribution to journalArticleAcademicpeer-review

Postnatal Effects of Sex Hormones on Click-Evoked Otoacoustic Emissions: A Study of Adolescents with Gender Dysphoria

Burke, S. M., van Heesewijk, J. O., Menks, W. M., Klink, D. T., Kreukels, B. P. C., Cohen-Kettenis, P. T. & Bakker, J., 1 Feb 2020, In : Archives of Sexual Behavior. 49, 2, p. 455-465 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Preclinical Detection of Non-catheter Related Late-onset Sepsis in Preterm Infants by Fecal Volatile Compounds Analysis: A Prospective, Multi-center Cohort Study

Berkhout, D. J. C., Niemarkt, H. J., Andriessen, P., Vijlbrief, D. C., Bomers, M. K., Cossey, V., Hulzebos, C. V., Van Kaam, A. H., Kramer, B. W., Van Lingen, R. A., Wicaksono, A. N., Covington, J. A., Van Weissenbruch, M. M., Benninga, M. A., De Boer, N. K. H. & De Meij, T. G. J., 1 Jan 2020, (Accepted/In press) In : Pediatric Infectious Disease Journal. p. 330-335 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Presentation and outcome of subsequent thyroid cancer among childhood cancer survivors compared to sporadic thyroid cancer: a matched national study

Clement, S. C., Lebbink, C. A., Klein Hesselink, M. S., Teepen, J. C., Links, T. P., Ronckers, C. M., van Santen, H. M. & on behalf of the DCOG-LATER Study Group, The Netherlands and the Dutch (Pediatric) Thyroid Cancer Consortium, Aug 2020, In : European Journal of Endocrinology. 183, 2, p. 169-180 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Propofol for endotracheal intubation in neonates: A dose-finding trial

de Kort, E. H. M., Prins, S. A., Reiss, I. K. M., Willemsen, S. P., Andriessen, P., van Weissenbruch, M. M. & Simons, S. H. P., 13 Jan 2020, In : Archives of Disease in Childhood-Fetal and Neonatal Edition.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Propofol in neonates causes a dose-dependent profound and protracted decrease in blood pressure

de Kort, E. H. M., Twisk, J. W. R., van t Verlaat, E. P. G., Reiss, I. K. M., Simons, S. H. P. & van Weissenbruch, M. M., 1 Jan 2020, (Accepted/In press) In : Acta Paediatrica, International Journal of Paediatrics.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Proteinuria—take a closer look!

Bökenkamp, A., 2020, In : Pediatric Nephrology. 35, 4, 9 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Publisher Correction: Common brain disorders are associated with heritable patterns of apparent aging of the brain (Nature Neuroscience, (2019), 22, 10, (1617-1623), 10.1038/s41593-019-0471-7)

Kaufmann, T., van der Meer, D., Doan, N. T., Schwarz, E., Lund, M. J., Agartz, I., Alnæs, D., Barch, D. M., Baur-Streubel, R., Bertolino, A., Bettella, F., Beyer, M. K., Bøen, E., Borgwardt, S., Brandt, C. L., Buitelaar, J., Celius, E. G., Cervenka, S., Conzelmann, A., Córdova-Palomera, A. & 79 others, Dale, A. M., de Quervain, D. J. F., Di Carlo, P., Djurovic, S., Dørum, E. S., Eisenacher, S., Elvsåshagen, T., Espeseth, T., Fatouros-Bergman, H., Flyckt, L., Franke, B., Frei, O., Haatveit, B., Håberg, A. K., Harbo, H. F., Hartman, C. A., Heslenfeld, D., Hoekstra, P. J., Høgestøl, E. A., Jernigan, T. L., Jonassen, R., Jönsson, E. G., Farde, L., Flyckt, L., Engberg, G., Erhardt, S., Fatouros-Bergman, H., Cervenka, S., Schwieler, L., Piehl, F., Agartz, I., Collste, K., Victorsson, P., Malmqvist, A., Hedberg, M., Orhan, F., Kirsch, P., Kłoszewska, I., Kolskår, K. K., Landrø, N. I., Le Hellard, S., Lesch, K. P., Lovestone, S., Lundervold, A., Lundervold, A. J., Maglanoc, L. A., Malt, U. F., Mecocci, P., Melle, I., Meyer-Lindenberg, A., Moberget, T., Norbom, L. B., Nordvik, J. E., Nyberg, L., Oosterlaan, J., Papalino, M., Papassotiropoulos, A., Pauli, P., Pergola, G., Persson, K., Richard, G., Rokicki, J., Sanders, A. M., Selbæk, G., Shadrin, A. A., Smeland, O. B., Soininen, H., Sowa, P., Steen, V. M., Tsolaki, M., Ulrichsen, K. M., Vellas, B., Wang, L., Westman, E., Ziegler, G. C., Zink, M., Andreassen, O. A., Westlye, L. T. & Karolinska Schizophrenia Project (KaSP), 1 Feb 2020, In : Nature Neuroscience. 23, 2, p. 295 1 p.

Research output: Contribution to journalErratumAcademicpeer-review

Open Access

Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors

Varderidou-Minasian, S., Hinz, L., Hagemans, D., Posthuma, D., Altelaar, M. & Heine, V. M., 27 May 2020, In : Molecular Autism. 11, 1, p. 38 38.

Research output: Contribution to journalArticleAcademicpeer-review

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

Vanderver, A., Bernard, G., Helman, G., Sherbini, O., Boeck, R., Cohn, J., Collins, A., Demarest, S., Dobbins, K., Emrick, L., Fraser, J., Masser-Frye, D., Hayward, J., Karmarkar, S., Keller, S., Mirrop, S., Mitchell, W., Pathak, S., Sherr, E., van Haren, K. & 11 others, Waters, E., Wilson, J. L., Zhorne, L., Schiffmann, R., van der Knaap, M. S., Pizzino, A., Dubbs, H., Shults, J., Simons, C., Taft, R. J. & LeukoSEQ Workgroup, 1 Jan 2020, (Accepted/In press) In : Annals of Neurology. 88, 2, 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Recommendations for long-term follow-up of adults with heritable retinoblastoma

Tonorezos, E. S., Friedman, D. N., Barnea, D., Bosscha, M. I., Chantada, G., Dommering, C. J., de Graaf, P., Dunkel, I. J., Fabius, A. W. M., Francis, J. H., Greer, M-L. C., Kleinerman, R. A., Kors, W. A., Laughlin, S., Moll, A. C., Morton, L. M., Temming, P., Tucker, M. A., van Leeuwen, F. E., Walsh, M. F. & 2 others, Oeffinger, K. C. & Abramson, D. H., 15 May 2020, In : Ophthalmology.

Research output: Contribution to journalArticleAcademicpeer-review

Revalidatieaspecten van COVID-19 bij kinderen: kinderspel?

Translated title of the contribution: Rehabilitation aspects of Covid-19 in childrenAlsem, MW., Knoester, H., Engelbert, R. H. H. & Buizer, AI., Jun 2020, In : Nederlands Tijdschrift voor Revalidatiegeneeskunde. 42, 3, p. 42 43 p.

Research output: Contribution to journalArticleProfessional

Risk Taking by Adolescents with Attention-Deficit/Hyperactivity Disorder (ADHD): a Behavioral and Psychophysiological Investigation of Peer Influence

Dekkers, T. J., Popma, A., Sonuga-Barke, E. J. S., Oldenhof, H., Bexkens, A., Jansen, B. R. J. & Huizenga, H. M., 1 Jan 2020, (Accepted/In press) In : Journal of Abnormal Child Psychology. 48, 9, 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Screening for Pineal Trilateral Retinoblastoma Revisited: A Meta-analysis

de Jong, M. C., Kors, W. A., Moll, A. C., de Graaf, P., Castelijns, J. A., Jansen, R. W., Gallie, B., Soliman, S. E., Shaikh, F., Dimaras, H. & Kivelä, T. T., May 2020, In : Ophthalmology. 127, 5, p. 601-607 7 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Should formula for infants provide arachidonic acid along with DHA? A position paper of the European Academy of Paediatrics and the Child Health Foundation

Koletzko, B., Bergmann, K., Brenna, J. T., Calder, P. C., Campoy, C., Clandinin, M. T., Colombo, J., Daly, M., Decsi, T., Demmelmair, H., Domellöf, M., FidlerMis, N., Gonzalez-Casanova, I., van Goudoever, J. B., Hadjipanayis, A., Hernell, O., Lapillonne, A., Mader, S., Martin, C. R., Matthäus, V. & 6 others, Ramakrishan, U., Smuts, C. M., Strain, S. J. J., Tanjung, C., Tounian, P. & Carlson, S. E., 1 Jan 2020, In : The American journal of clinical nutrition. 111, 1, p. 10-16 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The added value of diagnostic and theranostic PET imaging for the treatment of CNS tumors

Pruis, I. J., van Dongen, G. A. M. S. & Veldhuijzen van Zanten, S. E. M., 1 Feb 2020, In : International Journal of Molecular Sciences. 21, 3, 1029.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

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

The course of IGF-1 levels and nutrient intake in extremely and very preterm infants during hospitalisation

Yumani, D. F. J., Calor, A. K. & van Weissenbruch, M. M., Mar 2020, In : Nutrients. 12, 3, 675.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The faecal scent of inflammatory bowel disease: Detection and monitoring based on volatile organic compound analysis

Bosch, S., Wintjens, D. S. J., Wicaksono, A., Kuijvenhoven, J., van der Hulst, R., Stokkers, P., Daulton, E., Pierik, M. J., Covington, J. A., de Meij, T. G. J. & de Boer, N. K. H., 1 Jan 2020, (Accepted/In press) In : Digestive and Liver Disease. 52, 7, 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

The genetic architecture of the human cerebral cortex

Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)-Genetics working group, 20 Mar 2020, In : Science. 367, 6484, aay6690.

Research output: Contribution to journalArticleAcademicpeer-review

The importance of parental knowledge in the association between ADHD symptomatology and related domains of impairment

Dekkers, T. J., Huizenga, H. M., Bult, J., Popma, A. & Boyer, B. E., 1 Jan 2020, (Accepted/In press) In : European Child and Adolescent Psychiatry.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The influence of prenatal and intrapartum antibiotics on intestinal microbiota colonisation in infants: A systematic review

Dierikx, T. H., Visser, D. H., Benninga, M. A., van Kaam, A. H. L. C., de Boer, N. K. H., de Vries, R., van Limbergen, J. & de Meij, T. G. J., 1 Jan 2020, (Accepted/In press) In : Journal of Infection. 81, 2, 15 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

The perspectives of professional caregivers on quality of life of persons with profound intellectual and multiple disabilities: a qualitative study

Nieuwenhuijse, A. M., Willems, D. L., van Goudoever, J. B. & Olsman, E., 1 Jan 2020, (Accepted/In press) In : International Journal of Developmental Disabilities.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The relationship between adverse childhood experiences and self-sufficiency problems in early adulthood among violent offenders

Segeren, M., Fassaert, T., de Wit, M., Grimbergen, C. & Popma, A., 2020, In : Child Abuse and Neglect. 101, 104354.

Research output: Contribution to journalArticleAcademicpeer-review

The Validity of Teacher Rating Scales for the Assessment of ADHD Symptoms in the Classroom: A Systematic Review and Meta-Analysis

Staff, A. I., Oosterlaan, J., van der Oord, S., Hoekstra, P. J., Vertessen, K., de Vries, R., van den Hoofdakker, B. J. & Luman, M., 1 Jan 2020, (Accepted/In press) In : Journal of Attention Disorders.

Research output: Contribution to journalArticleAcademicpeer-review

To the Reviewers of Neuropediatrics in 2019

Plecko, B., Wolf, N. I. & Neubauer, B. A., 1 Aug 2020, In : Neuropediatrics. 51, 4, p. 237-239 3 p.

Research output: Contribution to journalEditorialAcademicpeer-review

Open Access

Towards Integrated Youth Care: A Systematic Review of Facilitators and Barriers for Professionals

Nooteboom, L. A., Mulder, E. A., Kuiper, C. H. Z., Colins, O. F. & Vermeiren, R. R. J. M., 1 Jan 2020, (Accepted/In press) In : Administration and Policy in Mental Health and Mental Health Services Research.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Urinary metabolmic profiling of an altered brain-gut axis by chronic neuroinflammation from CNS bacterial infections.

Isaiah, S., Loots, D. T., Solomons, R., van der Kuip, M., Tutu-van Furth, AM. & Mason, S., 2020, In : Frontiers in Neuroscience. 14, p. 291

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Usefulness of current candidate genetic markers to identify childhood cancer patients at risk for platinum-induced ototoxicity: Results of the European PanCareLIFE cohort study

PanCareLIFE Consortium, 1 Oct 2020, In : European Journal of Cancer. 138, p. 212-224

Research output: Contribution to journalArticleAcademicpeer-review

Use of the Dyskinesia Impairment Scale in non-ambulatory dyskinetic cerebral palsy

Haberfehlner, H., Bonouvrié, L. A., Boeschoten, K., Fleuren, S., Monbaliu, E., Becher, J. G., Vermeulen, R. J. & Buizer, A. I., 1 Apr 2020, In : Developmental Medicine and Child Neurology. 62, 4, 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Küsters, B., van Emst-de Vries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M. & Rodenburg, R. J., 1 Apr 2020, In : Clinical Genetics. 97, 4, p. 556-566 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access