Search Results - "de Wit, M. C. Y."

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials by Müller, A R, den Hollander, B, van de Ven, P M, Roes, K C B, Geertjens, L, Bruining, H, van Karnebeek, C D M, Jansen, F E, de Wit, M C Y, Ten Hoopen, L W, Rietman, A B, Dierckx, B, Wijburg, F A, Boot, E, Brands, M M G, van Eeghen, A M

“…Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments,…”
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Child characteristics associated with child quality of life and parenting stress in Angelman syndrome by Hagenaar, D. A., Bindels‐de Heus, K. G. C. B., Lubbers, K., Hoopen, L. W., Rietman, A. B., Nijs, P. F. A., Hillegers, M. H. J., Moll, H. A., Wit, M. C. Y., Dieleman, G. C., Mous, S. E.

“…Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterised by severe intellectual disability, movement disorder, epilepsy, sleeping…”
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Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects by de Wit, M C Y, Kros, J M, Halley, D J J, de Coo, I F M, Verdijk, R, Jacobs, B C, Mancini, G M S

“…Filamin A is an important gene involved in the development of the brain, heart, connective tissue and blood vessels. A case is presented illustrating the…”
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Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex by Overwater, I. E., Verhaar, B. J. H., Lingsma, H. F., Bindels-de Heus, G. C. B., van den Ouweland, A. M. W., Nellist, M., ten Hoopen, L. W., Elgersma, Y., Moll, H. A., de Wit, M. C. Y.

“…Cognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and…”
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Movement disorder and neuronal migration disorder due to ARFGEF2 mutation by de Wit, M. C. Y., de Coo, I. F. M., Halley, D. J. J., Lequin, M. H., Mancini, G. M. S.

“…We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on…”
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Recognizing Guillain-Barré syndrome in preschool children by ROODBOL, J, DE WIT, M. C. Y, WALGAARD, C, DE HOOG, M, CATSMAN-BERREVOETS, C. E, JACOBS, B. C

“…To determine whether recognition of Guillain-Barré syndrome (GBS) is delayed in preschool children, what causes this delay, and if the clinical presentation…”
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Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus by DE WIT, M. C. Y, DE COO, I. F. M, JULIER, C, DELEPINE, M, LEQUIN, M. H, VAN DE LAAR, I, SIBBLES, B. J, BRUINING, G. J, MANCINI, G. M. S

“…Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent…”
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Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A by Oegema, R., de Klein, A., Verkerk, A.J., Schot, R., Dumee, B., Douben, H., Eussen, B., Dubbel, L., Poddighe, P.J., van der Laar, I., Dobyns, W.B., van der Spek, P.J., Lequin, M.H., de Coo, I.F.M., de Wit, M.-C.Y., Wessels, M.W., Mancini, G.M.S.

“…Partial monosomy 21 has been reported, but the phenotypes described are variable with location and size of the deletion. We present 2 patients with a partially…”
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Validated age-specific reference values for CSF total protein levels in children by Kahlmann, V, Roodbol, J, van Leeuwen, N, Ramakers, C.R.B, van Pelt, D, Neuteboom, R.F, Catsman-Berrevoets, C.E, de Wit, M.C.Y, Jacobs, B.C

“…Abstract Objective To define age-specific reference values for cerebrospinal fluid (CSF) total protein levels for children and validate these values in…”
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Immediate post-radiotherapy changes in malignant glioma can mimic tumor progression by DE WIT, M. C. Y, DE BRUIN, H. G, EIJKENBOOM, W, SILLEVIS SMITT, P. A. E, VAN DEN BENT, M. J

“…To determine the frequency of progressive MRI lesions shortly after radiotherapy for glioma with spontaneous improvement or stabilization, the authors studied…”
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Lung disease in FLNA mutation: Confirmatory report by de Wit, M.C.Y, Tiddens, H.A.W.M, de Coo, I.F.M, Mancini, G.M.S

“…Abstract Recently in this journal, Masurel-Paulet et al. reported the association between pulmonary disease and a mutation in X-linked FLNA in a male patient…”
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Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency by de Wit, M.C.Y., de Coo, I.F.M., Verbeek, E., Schot, R., Schoonderwoerd, G.C., Duran, M., de Klerk, J.B.C., Huijmans, J.G.M., Lequin, M.H., Verheijen, F.W., Mancini, G.M.S.

“…Malonyl-CoA decarboxylase (MCD) deficiency is an extremely rare inborn error of metabolism that presents with metabolic acidosis, hypoglycemia, and/or…”
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