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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
Brain. 2010.
PMID: 20129935
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.
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Autosomal recessive inheritance of GLUT1 deficiency syndrome.
Klepper J, Scheffer H, Elsaid MF, Kamsteeg EJ, Leferink M, Ben-Omran T.
Klepper J, et al. Among authors: leferink m.
Neuropediatrics. 2009 Oct;40(5):207-10. doi: 10.1055/s-0030-1248264. Epub 2010 Mar 10.
Neuropediatrics. 2009.
PMID: 20221955
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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.
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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.
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Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.
Smeekens SP, Leferink M, Yntema HG, Kamsteeg EJ.
Smeekens SP, et al. Among authors: leferink m.
Prenat Diagn. 2024 May 23. doi: 10.1002/pd.6595. Online ahead of print.
Prenat Diagn. 2024.
PMID: 38782597
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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.
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