Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Autosomal recessive inheritance of GLUT1 deficiency syndrome.
Neuropediatrics. 2009 Oct;40(5):207-10. doi: 10.1055/s-0030-1248264. Epub 2010 Mar 10.
Neuropediatrics. 2009.
PMID: 20221955
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
Klepper J, Scheffer H, Leiendecker B, Gertsen E, Binder S, Leferink M, Hertzberg C, Näke A, Voit T, Willemsen MA.
Klepper J, et al. Among authors: leferink m.
Neuropediatrics. 2005 Oct;36(5):302-8. doi: 10.1055/s-2005-872843.
Neuropediatrics. 2005.
PMID: 16217704
Clinical Trial.
Item in Clipboard
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA.
Leen WG, et al. Among authors: leferink m.
Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
Brain. 2010.
PMID: 20129935
Item in Clipboard
Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
Coenen MJ, Tieleman AA, Schijvenaars MM, Leferink M, Ranum LP, Scheffer H, van Engelen BG.
Coenen MJ, et al. Among authors: leferink m.
Eur J Hum Genet. 2011 May;19(5):567-70. doi: 10.1038/ejhg.2010.233. Epub 2011 Jan 12.
Eur J Hum Genet. 2011.
PMID: 21224892
Free PMC article.
Item in Clipboard
Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
Leferink M, Wong DPW, Cai S, Yeo M, Ho J, Lian M, Kamsteeg EJ, Chong SS, Haer-Wigman L, Guan M.
Leferink M, et al.
Sci Rep. 2019 Jun 4;9(1):8280. doi: 10.1038/s41598-019-44588-3.
Sci Rep. 2019.
PMID: 31164682
Free PMC article.
Item in Clipboard
A high urea-to-creatinine ratio predicts long-term mortality independent of acute kidney injury among patients hospitalized with an infection.
van der Slikke EC, Star BS, de Jager VD, Leferink MBM, Klein LM, Quinten VM, Olgers TJ, Ter Maaten JC, Bouma HR.
van der Slikke EC, et al. Among authors: leferink mbm.
Sci Rep. 2020 Sep 24;10(1):15649. doi: 10.1038/s41598-020-72815-9.
Sci Rep. 2020.
PMID: 32973256
Free PMC article.
Item in Clipboard
Cite
Cite