Research Output 1985 2019

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2019

Dihydropyrimidine dehydrogenase deficiency: Homozygosity for an extremely rare variant in DPYD due to uniparental isodisomy of chromosome 1

van Kuilenburg, A. B. P., Meijer, J., Meinsma, R., Pérez-Dueñas, B., Alders, M., Bhuiyan, Z. A., Artuch, R. & Hennekam, R. C. M., 2019, JIMD Reports. Springer, Vol. 45. p. 65-69 (JIMD Reports).

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

Inborn errors of metabolism

Ferreira, C. R. & van Karnebeek, C. D. M., 1 Jan 2019, Handbook of Clinical Neurology. Elsevier B.V., Vol. 162. p. 449-481 (Handbook of Clinical Neurology).

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

Psychosocial functioning in parents of MPS III patients

Conijn, T., Nijmeijer, S. C. M., van Oers, H. A., Wijburg, F. A. & Haverman, L., 1 Jan 2019, JIMD Reports. Springer, Vol. 44. p. 33-41 (JIMD Reports).

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

Severe leukoencephalopathy with clinical recovery caused by recessive BOLA3 mutations

Stutterd, C. A., Lake, N. J., Peters, H., Lockhart, P. J., Taft, R. J., van der Knaap, M. S., Vanderver, A., Thorburn, D. R., Simons, C. & Leventer, R. J., 2019, JIMD Reports. Springer, Vol. 43. p. 63-70 (JIMD Reports).

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

2017

Cocaine and an Overview of Neurocognitive Relapse Predictors

Marhe, R., 2017, The Neuroscience of Cocaine: Mechanisms and Treatment. Elsevier Inc., p. 617-625 (The Neuroscience of Cocaine: Mechanisms and Treatment).

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

Declining FT4 concentrations following cranial irradiation: Indications for early development of mild central hypothyroidism?

Van Lersel, L., Clement, S. C., Schouten-Van Meeteren, A. Y. N., Boot, A. M., Claahsen-Van Der Grinten, H. L., Granzen, B., Han, K. S., Janssens, G. O., Michiels, E. M., Van Trotsenburg, A. S. P., Vandertop, W. P., Van Vuurden, D. G., Caron, H. N., Kremer, L. C. M. & Van Santen, H. M., 2017, Endocrine Reviews. (Endocrine Reviews; vol. 38).

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

Gedwongen opname bij een patient met een psychose

Zinkstok, J., van Amelsvoort, T., Birkenhäger, T., Voshaar, R. C. O., Popma, A. & van Balkom, AJLM., 2017, Met recht en reden in de praktijk: Liber amicorum voor Dick Engberts. Houtlosser, M., Loos, R. A. C. & Touwen, D. P. (eds.). Leiden: Universiteit Leiden, p. 178-182 5 p.

Research output: Chapter in Book/Report/Conference proceedingChapterProfessional

Genetic and Metabolic Disorders of the White Matter

Vanderver, A. & Wolf, N. I., 2017, Swaiman's Pediatric Neurology: Principles and Practice: Sixth Edition. Elsevier Inc., p. 747-758 (Swaiman's Pediatric Neurology: Principles and Practice: Sixth Edition).

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

RARS2 mutations: Is pontocerebellar hypoplasia type 6 a mitochondrial encephalopathy?

van Dijk, T., van Ruissen, F., Jaeger, B., Rodenburg, R. J., Tamminga, S., van Maarle, M., Baas, F., Wolf, N. I. & Poll-The, B. T., 2017, JIMD Reports. Springer, Vol. 33. p. 87-92 (JIMD Reports).

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

2016

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

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

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

Programming Long-Term Health: Nutritional and Dietary Needs in Infant Prematurity

van Goudoever, J. B., de Waard, M. & Kouwenhoven, S. M., 29 Dec 2016, Early Nutrition and Long-Term Health: Mechanisms, Consequences, and Opportunities. Elsevier Inc., p. 413-425 13 p.

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

Towards a better understanding of adolescent risk-taking: Contextual moderators and model-based analysis

Van Duijvenvoorde, A. C. K., Blankenstein, N. E., Crone, E. A. & Figner, B., 1 Jan 2016, Individual Differences in Judgement and Decision-Making: A Developmental Perspective. Taylor and Francis, p. 8-27 20 p.

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

TUBB4A-Related Leukodystrophy

Nahhas, N., Conant, A., Hamilton, EMC., Curiel, J., Simons, C., van der Knaap, MS. & Vanderver, A., 3 Nov 2016, GeneReviews® [Internet]. Pagon, RA., Adam, MP., Ardinger, HH. & E. A. (eds.). Seattle (WA), USA: University of Washington, Seattle, Vol. 1993-2017.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2015

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

Dual Disorders in Adolescent Populations

van West, D. & Vermeiren, R. R. J. M., 2015, Co-occurring Addictive and Psychiatric Disorders. p. 335-347

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Hypomyelination and Congenital Cataract

Biancheri, R., Zara, F., Bruno, C., Gazzerro, E., Rossi, A., Knaap, M. & Minetti, C., 2015, GeneReviews® [internet]. Seattle (WA): University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Koorts bij kinderen

Wassenaar, O. & Tutu-van Furth, AM., 2015, Koorts bij kinderen. Bohn Stafleu van Loghum

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

The Societal Burden of Child Abuse: Long-Term Mental Health and Behavioral Consequences

Leenarts, L. E. W., McReynolds, L. S., Vermeiren, R. R. J. M., Doreleijers, T. A. H. & Wasserman, G. A., 2015, The Societal Burden of Child Abuse: Long-Term Mental Health and Behavioral Consequences. Apple Academic Pres, p. 39-51

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2014

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

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

De volwassen patiënt als dader

van Nieuwenhuizen, C., de Ranitz, A., Bogaerts, S. & Vermeiren, R. R. J. M., 2014, Handboek Sociale Psychiatrie. Deel 1 De basis van de sociale psychiatrie.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Gemeenten willen wel, maar er is nog veel onduidelijk

Vermeiren, R. R. J. M., 2014, De gemeente als kinderpsychiater. Transitie van de jeugd-ggz: kans of bedreiging?. p. 15-23

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Infectieziekten

Warris, A. & Tutu-van Furth, AM., 2014, Infectieziekten. uitgeverij de Tijdstroom

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

Leukodytstophy overview

Vanderver, A., Tonduti, D., Schiffmann, R., Schmidt, J. & van der Knaap, M. S., 2014, GeneReviews® [Internet]. Seattle (WA): University of Washington

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Neonatal and Infant Nutrition, Breastfeeding

Turck, D. & van Goudoever, J. B., 2014, NUTRITION AND GROWTH: YEARBOOK 2014. p. 23-35 (World Review of Nutrition and Dietetics; no. 2).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Oxidative Stress and Glutathione Synthesis Rates in Early Postnatal Life

Rook, D. & van Goudoever, J. B., 2014, Perinatal and Prenatal Disorders. New York: Springer, p. 255-296

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Vanishing white matter disease (CACH syndrome)

Scheper, G. C. & van der Knaap, M. S., 2014, Encyclopedia of the Neurological Sciences. Oxford: Academic Press, p. 595-601

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Wilms Tumour in Countries with Limited Resources

Metzger, M., Wilimas, J. A., Harif, M. & Israels, T., 2014, Renal Tumors of Childhood. Berlin Heidelberg: Springer, p. 271-281

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2013

Diagnostiek en behandeling

Cohen-Kettenis, P. T. & de Vries, A. L. C., 2013, Transgenderzorg. Leuven, Belgium: Acco, p. 81-89

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Endemic Burkitt’s Lymphoma

Molyneux, E., Israels, T. & Walwyn, T., 2013, Burkitt’s Lymphoma. New York: Springer, p. 6 (Current Cancer Research).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Errors of metabolism in the neonatal period

Wolf, N. I. & Surtees, R., 2013, Pediatric Epilepsy. McGraw-Hill, p. 112-120

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Gastro-intestinaal systeem

Lafeber, H. N., 2013, Leerboek intensive care verpleegkunde neonatologie. Amsterdam: Reed Business Education, p. 545-636

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Gendefysforie

de Vries, A. L. C., Sandberg, W. & Cohen-Kettenis, P. T., 2013, Leerboek psychiatrie kinderen en adolescenten. Utrecht: De Tijdstroom, p. 393-400

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Gender identity development, a biopsychosocial perspective

de Vries, A. L. C., Kreukels, B. P. C., Steensma, T. D. & McGuire, J. K., 2013, Gender Dysphoria and Disorders of Sex Development: Progress in Care and Knowledge. New York: Springer, p. 53-80 (Focus on Sexuality Research).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Hulpverlening aan kinderen en adolescenten; Diagnostiek en behandeling

Cohen-Kettenis, P. T. & de Vries, A. L. C., 2013, Transgenderzorg. Leuven, Belgium: Acco, p. 79-89

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Middelengebruik, middelenmisbruik en middelenafhankelijkheid

Jansen, L. M. C. & Hendriks, V., 2013, Leerboek psychiatrie Kinderen en adolescenten. Utrecht: De Tijdstroom

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Optimal Growth of Preterm Infants

Corpeleijn, W. E., Kouwenhoven, S. M. P. & van Goudoever, J. B., 2013, World Review of Nutrition and Dietetics. Karger, p. 149-155 149 p.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Premature infants

Finken, M. J. J., 2013, Caring for Children Born Small for Gestational Age. Springer Healthcare, p. 127-149 (Caring for Children Born Small for Gestational Age).

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

Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration

Wolf, N. I. & Koenig, M., 2013, Pediatric Neurology Part III. Elsevier, p. 1869-1878 (Handbook of Clinical Neurology, vol. 113; no. 192).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Second malignancies and other long-term effects in retinoblastoma survivors

Moll, A. C., van Dijk, J., Bosscha, M. I., Dommering, C. J., de Graaf, P., Kors, W. A. & van Leeuwen, F. E., 2013, Retinoblastoma: Clinical advances and emerging treatment strategies. p. 109-125

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Wetenschappelijk onderzoek in de kinder- en jeugdpsycvhiatrie

Jansen, L. M. C. & Vermeiren, R. R. J. M., 2013, Leerboek psychiatrie Kinderen en adolescenten. Utrecht: De Tijdstroom

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2012

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

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

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

Coeliakie

Damoiseaux, R. A. M. J. & Kneepkens, C. M. F., 2012, Kindergeneeskunde. Houten: Bohn Stafleu van Loghum, p. 301-311

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

De Early Assessment Risk Lists

de Ruiter, C., van Domburgh, L. & Augimeri, L., 2012, Instrumenten voor risicotaxatie. Amsterdam: Pearson

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Dehydratie door spugen en diarree

Kneepkens, C. M. F. & Hoekstra, H. J., 2012, Kindergeneeskunde. Houten: Bohn Stafleu van Loghum, p. 235-248

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Een kind met een opgezette buik

Kaspers, G. J. L., 2012, Probleemgeoriënteerd denken in de kindergeneeskunde. De Tijdstroom

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic