Zobrazeno 1 - 10
of 239
pro vyhledávání: '"Michèl A. Willemsen"'
Autor:
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 31-39 (2019)
Abstract Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurologic
Externí odkaz:
https://doaj.org/article/15fb8b1950804d25a28949915fc0f2f3
Autor:
Tessa Wassenberg, Ben P.H. Geurtz, Leo Monnens, Ron A. Wevers, Michèl A. Willemsen, Marcel M. Verbeek
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100762- (2021)
Background: Aromatic L-amino acid decarboxylase (AADC) deficiency and tyrosine hydroxylase (TH) deficiency are rare inherited disorders of monoamine neurotransmitter synthesis which are typically diagnosed using cerebrospinal fluid examination of mon
Externí odkaz:
https://doaj.org/article/c28e041f2c7e438b9044e2ecb93a93aa
Autor:
Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role
Externí odkaz:
https://doaj.org/article/8c594ab0c7de47199c4d3dccb48830a8
Autor:
Renée J.H. Richters, Marieke M.B. Seyger, Kim A.P. Meeuwis, Tuula Rinne, Astrid Eijkelenboom, Michèl A. Willemsen
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 8, p adv00103 (2020)
Abstract is missing (Short communication)
Externí odkaz:
https://doaj.org/article/c56244bfed2547379fb6ceffa51a0990
Autor:
Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Abstract Background The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to m
Externí odkaz:
https://doaj.org/article/9adc7417292e4798a0ee0866d8eaaebd
Publikováno v:
European Journal of Pediatrics, 181, 2227-2235
European Journal of Pediatrics, 181, 6, pp. 2227-2235
European Journal of Pediatrics, 181, 6, pp. 2227-2235
Traditionally, clinicians consider lactate as a waste product of anaerobic glycolysis. Interestingly, research has shown that lactate may serve as an alternative fuel for the brain to protect it against harm. The increasing scientific awareness of th
Autor:
Jan J.G.M. Verschuuren, Jos G.M. Hendriksen, Lotte Heutinck, Edith H. C. Cup, Erik H. Niks, Imelda J. M. de Groot, Yvonne D. Krom, Michèl A.A.P. Willemsen, Saskia L.S. Houwen-van Opstal, Merel Jansen
Publikováno v:
Muscle & Nerve, 64(6), 701-709. WILEY
Muscle and Nerve, 64, 6, pp. 701-709
Muscle and Nerve, 64, 701-709
Muscle and Nerve, 64, 6, pp. 701-709
Muscle and Nerve, 64, 701-709
Contains fulltext : 244841.pdf (Publisher’s version ) (Open Access) INTRODUCTION/AIMS: As life expectancy improves for patients with Duchenne muscular dystrophy (DMD), new symptoms are likely to arise. This aims of this study are: (1) to explore th
Autor:
Rinze F. Neuteboom, F. Visscher, H. M. Schippers, Els A. J. Peeters, Maartje Boon, Coriene E. Catsman-Berrevoets, M. J. Eikelenboom, Cacha M.P.C.D. Peeters-Scholte, D.P. Bakker, J.M.F. Niermeijer, R.J. Vermeulen, Irina N. Snoeck, Michèl A.A.P. Willemsen, Yu Yi M Wong, L.T.L. Sie, R. Brandsma, J. F. de Rijk-van Andel, R. P. Portier, Jelte Helfferich, E Daniëlle van Pelt, Arlette L. Bruijstens, Charlotte A. Haaxma, J. P. A. Samijn, K. G. J. van Dijk, Kees P.J. Braun, Marc Engelen, Aad Verrips, Erik H. Niks
Publikováno v:
Brain and Development, 43(5), 626-636. Elsevier
Helfferich, J, Bruijstens, A L, Wong, Y Y M, Danielle van Pelt, E, Boon, M, Neuteboom, R F, Bakker, D P, Braun, K P J, van Dijk, K G J, Eikelenboom, M J, Engelen, M, Brandsma, R, Haaxma, C A, Niermeijer, J M F, Niks, E H, Peeters, E A J, Peeters-Scholte, C M P C D, Portier, R P, de Rijk-van Andel, J F, Samijn, J P A, Schippers, H M, Sie, L T L, Snoeck, I N, Vermeulen, R J, Verrips, A, Visscher, F, Willemsen, M A A P & Catsman-Berrevoets, C E 2021, ' Prognostic factors for relapse and outcome in pediatric acute transverse myelitis ', Brain and Development, vol. 43, no. 5, pp. 626-636 . https://doi.org/10.1016/j.braindev.2020.12.019
Brain & Development, 43(5), 626-636. Elsevier
Brain & development, 43(5), 626-636. Elsevier
Helfferich, J, Bruijstens, A L, Wong, Y Y M, Danielle van Pelt, E, Boon, M, Neuteboom, R F, Bakker, D P, Braun, K P J, van Dijk, K G J, Eikelenboom, M J, Engelen, M, Brandsma, R, Haaxma, C A, Niermeijer, J M F, Niks, E H, Peeters, E A J, Peeters-Scholte, C M P C D, Portier, R P, de Rijk-van Andel, J F, Samijn, J P A, Schippers, H M, Sie, L T L, Snoeck, I N, Vermeulen, R J, Verrips, A, Visscher, F, Willemsen, M A A P & Catsman-Berrevoets, C E 2021, ' Prognostic factors for relapse and outcome in pediatric acute transverse myelitis ', Brain and Development, vol. 43, no. 5, pp. 626-636 . https://doi.org/10.1016/j.braindev.2020.12.019
Brain & Development, 43(5), 626-636. Elsevier
Brain & development, 43(5), 626-636. Elsevier
Objective: It may be difficult for clinicians to estimate the prognosis of pediatric acute transverse myelitis (ATM). The aim of this study was to define prognostic factors for relapsing disease and poor outcome in pediatric ATM.Methods: This prospec
Autor:
Tessa M.A. Peters, Jona Merx, Pieter C. Kooijman, Marek Noga, Siebolt de Boer, Loes A. van Gemert, Guido Salden, Udo F.H. Engelke, Dirk J. Lefeber, Rianne E. van Outersterp, Giel Berden, Thomas J. Boltje, Rafael Artuch, Leticia Pías, Ángeles García-Cazorla, Ivo Barić, Beat Thöny, Jos Oomens, Jonathan Martens, Ron A. Wevers, Marcel M. Verbeek, Karlien L.M. Coene, Michèl A.A.P. Willemsen
We used next-generation metabolic screening to identify new biomarkers for improved diagnosis and pathophysiological understanding of glucose transporter type 1 deficiency syndrome (GLUT1DS), comparing metabolic CSF profiles from 11 patients to those
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a9ed5b015117b27503889b8226c8707
https://doi.org/10.1101/2022.04.15.22273511
https://doi.org/10.1101/2022.04.15.22273511
Autor:
Nienke J H van Os, Michèl A.A.P. Willemsen, Stefanie J.G. Veenhuis, Leenke van Haaften, Marjo H.J.C. van Gerven, Elisabeth H Mulder, Corry M.R. Weemaes
Publikováno v:
Developmental Medicine & Child Neurology, 63, 4, pp. 450-456
Developmental Medicine & Child Neurology, 63, 450-456
Developmental Medicine and Child Neurology
Developmental Medicine & Child Neurology, 63, 450-456
Developmental Medicine and Child Neurology
Aim To investigate the characteristics and severity of dysarthria in children and adults with ataxia telangiectasia. Method All children and adults with ataxia telangiectasia who visited our multidisciplinary outpatient clinic for ataxia telangiectas