Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Wilhelmina G, Leen"'
Autor:
Joerg Klepper, Cigdem Akman, Marisa Armeno, Stéphane Auvin, Mackenzie Cervenka, Helen J. Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H. Kossoff, Wilhelmina G. Leen, Baerbel Leiendecker, Umrao R. Monani, Hirokazu Oguni, Elizabeth Neal, Juan M. Pascual, Toni S. Pearson, Roser Pons, Ingrid E. Scheffer, Pierangelo Veggiotti, Michél Willemsen, Sameer M. Zuberi, Darryl C. De Vivo
Publikováno v:
Epilepsia Open, Vol 5, Iss 3, Pp 354-365 (2020)
Abstract Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose trans
Externí odkaz:
https://doaj.org/article/2fa0007690e94933a2416d2145d27364
Autor:
Lisette H. Koens, Inge Tuitert, Hans Blokzijl, Marc Engelen, Femke C. C. Klouwer, Fiete Lange, Wilhelmina G. Leen, Roelineke J. Lunsing, Johannes H. T. M. Koelman, Aad Verrips, Tom J. de Koning, Marina A. J. Tijssen
Publikováno v:
Journal of Inherited Metabolic Disease, 45(5), 981-995. SPRINGER
Journal of Inherited Metabolic Disease, 45(5), 981-995. Springer Netherlands
Journal of inherited metabolic disease, 45(5), 981-995. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(5), 981-995. Springer Netherlands
Journal of inherited metabolic disease, 45(5), 981-995. Springer Netherlands
Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye movem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d074f508f7b15fc46638a37f5edabc58
https://pubmed.ncbi.nlm.nih.gov/35758105
https://pubmed.ncbi.nlm.nih.gov/35758105
Publikováno v:
European Journal of Paediatric Neurology, 38, pp. 73-76
European Journal of Paediatric Neurology, 38, 73-76
European Journal of Paediatric Neurology, 38, 73-76
In the literature, microcephaly is considered as part of the classical phenotype of glucose transporter 1 deficiency syndrome (GLUT1DS), and previous cohort studies reported a prevalence of microcephaly of around 50%. In our clinical experience, howe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c773a62a4fa37e6f24904a5df5959548
https://pubmed.ncbi.nlm.nih.gov/35500464
https://pubmed.ncbi.nlm.nih.gov/35500464
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e42745 (2012)
Cerebrospinal fluid (CSF) analysis is an important tool in the diagnostic work-up of many neurological disorders, but reference ranges for CSF glucose, CSF/plasma glucose ratio and CSF lactate based on studies with large numbers of CSF samples are no
Externí odkaz:
https://doaj.org/article/31dc04bddc6d48f193a9b61e475968a4
Autor:
Claudia M Weller, Joost Haan, Hans Scheffer, Arn M. J. M. van den Maagdenberg, Michèl A.A.P. Willemsen, Boukje de Vries, Gisela M. Terwindt, Michel D. Ferrari, Brian G. R. Neville, Erik-Jan Kamsteeg, John S. Duncan, Wilhelmina G. Leen, Marije A Geilenkirchen
Publikováno v:
Cephalalgia, 35, 1, pp. 10-5
Cephalalgia, 35(1), 10-15
Cephalalgia, 35, 10-5
Cephalalgia, 35(1), 10-15
Cephalalgia, 35, 10-5
Background Hemiplegic migraine (HM) and alternating hemiplegia of childhood (AHC) are rare episodic neurological brain disorders with partial clinical and genetic overlap. Recently, ATP1A3 mutations were shown to account for the majority of AHC patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5fc6345540dfa2fc193d0b798a56bae
https://hdl.handle.net/2066/155256
https://hdl.handle.net/2066/155256
Autor:
Joris A. Veltman, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen, Bregje W.M. van Bon, Wilhelmina G. Leen, Christian Gilissen, Sinje Geuer, Erik-Jan Kamsteeg, Joerg Klepper, Ron A. Wevers, Maartje Pennings, Michael Kwint, Marcel M. Verbeek
Publikováno v:
European Journal of Human Genetics, 25, 771-774
European Journal of Human Genetics, 25, 6, pp. 771-774
European Journal of Human Genetics, 25, 6, pp. 771-774
Contains fulltext : 174080.pdf (Publisher’s version ) (Closed access) Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36f07dab4058fff7d02c9b508d128edc
http://hdl.handle.net/2066/174080
http://hdl.handle.net/2066/174080
Autor:
Michèl A.A.P. Willemsen, Bart P.C. van de Warrenburg, Wilhelmina G. Leen, Leena Mewasingh, Marcel M. Verbeek, Erik-Jan Kamsteeg
Publikováno v:
Movement Disorders. 28:1439-1442
Background Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::20f1c3b4e088f610fe4dfc13881a0513
https://doi.org/10.1002/mds.25515
https://doi.org/10.1002/mds.25515
Publikováno v:
European Journal of Paediatric Neurology, 20, 1, pp. 3-10
European Journal of Paediatric Neurology, 20, 3-10
European Journal of Paediatric Neurology, 20, 3-10
Background Lactate is traditionally seen as a marker of ischemia and a waste product of anaerobic glycolysis. In the last thirty years a more beneficial side of lactate as an alternative 'glucose sparing' fuel has been demonstrated. However, the tran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7a56048067a1a279498d72e06f8bb9
https://doi.org/10.1016/j.ejpn.2015.09.008
https://doi.org/10.1016/j.ejpn.2015.09.008
Autor:
Marcel M. Verbeek, Michèl A.A.P. Willemsen, Diane Slats, Jurgen A.H.R. Claassen, Wilhelmina G. Leen
Publikováno v:
Journal of Cerebral Blood Flow and Metabolism, 36, 5, pp. 899-902
Journal of Cerebral Blood Flow and Metabolism, 36, 899-902
Journal of Cerebral Blood Flow and Metabolism, 36, 899-902
Item does not contain fulltext Cerebrospinal fluid analysis is important in the diagnostics of many neurological disorders. Since the influence of food intake on the cerebrospinal fluid glucose concentration and the cerebrospinal fluid/plasma glucose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acaed6bb2b12b07b3a71311048102093
https://hdl.handle.net/2066/167297
https://hdl.handle.net/2066/167297
Autor:
Patrick Van Bogaert, Kevin Farrell, David Webb, Kathy Leppig, Adela Della Marina, Richard Tomlinson, Peter E. Clayton, Baziel G.M. van Engelen, Todd Arthur, Vincent Laugel, Tom G.J. Hofste, C. Rauscher, Nadia Bahi-Buisson, Hans Holthausen, Stephanie Gross, F. Ebinger, Brigitte Chabrol, Rob Forsyth, Axel Panzer, Nils O. Nilsson, Michael Champion, Loreto Martorell, Ron A. Wevers, Marcel M. Verbeek, Inger Sandvig, Wilhelmina G. Leen, Christophe M. R. Rouselle, Maike Leferink, Katherine Lachlan, Bwee Tien Poll-The, Helen Mundy, Parol Sykora, Hans Scheffer, Bernhard Weschke, Ines Carrilho, Michèl A.A.P. Willemsen, Ming K. Lim, Athanasios Evangeliou, Joe McMenamin, Stephanie Grunewald, Jolita Bekhof, Marije E. C. Meuwissen, Christian de Goede, Thomas Scheffner, Elizabeth J. Donner, Joerg Klepper, John Trounce, Grazia M.S. Mancini, Eamonn Sheridan, Diana Ballhausen, Sandeep Jayawant, Neil Simpson, James Coldwell
Publikováno v:
Brain, vol. 133, no. 3, pp. 655-670
Brain, 133, 655-70
Brain, 133, 655-670. Oxford University Press
Brain
Brain, 133(Part 3), 655-670. Oxford University Press
Brain, 133, Pt 3, pp. 655-70
Brain, 133, 655-70
Brain, 133, 655-670. Oxford University Press
Brain
Brain, 133(Part 3), 655-670. Oxford University Press
Brain, 133, Pt 3, pp. 655-70
Contains fulltext : 88466.pdf (Publisher’s version ) (Closed access) Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa23e89c1539e5d537691bf49ae6c1e
https://hdl.handle.net/2066/88466
https://hdl.handle.net/2066/88466