Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

Autor: Engelke UF; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., van Outersterp RE; Institute for Molecules and Materials, FELIX Laboratory and., Merx J; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands., van Geenen FA; Institute for Molecules and Materials, FELIX Laboratory and., van Rooij A; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Berden G; Institute for Molecules and Materials, FELIX Laboratory and., Huigen MC; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Kluijtmans LA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Peters TM; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Al-Shekaili HH; Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia Vancouver, British Columbia, Canada., Leavitt BR; Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia Vancouver, British Columbia, Canada., de Vrieze E; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Broekman S; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., van Wijk E; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Tseng LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, Netherlands., Kulkarni P; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Rutjes FP; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands., Mecinović J; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands.; Department of Physics, Chemistry and Pharmacy, University of Southern Denmark, Odense, Denmark., Struys EA; Department of Clinical Chemistry, Amsterdam University Medical Centers, location VU Medical Centre, Amsterdam, Netherlands., Jansen LA; Division of Pediatric Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Gospe SM Jr; Departments of Neurology and Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Duke University, Durham, North Carolina, USA., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Hyland K; Medical Neurogenetics Laboratories, Atlanta, Georgia, USA., Willemsen MA; Department of Pediatric Neurology, Radboud University Medical Centre, Nijmegen, Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Centre, Veldhoven, Netherlands., van Karnebeek CD; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, Netherlands.; Department of Pediatrics-Metabolic Diseases, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; United for Metabolic Diseases (UMD), Netherlands., Wevers RA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Boltje TJ; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands., Oomens J; Institute for Molecules and Materials, FELIX Laboratory and.; Van't Hoff Institute for Molecular Sciences, University of Amsterdam, Amsterdam, Netherlands., Martens J; Institute for Molecules and Materials, FELIX Laboratory and., Coene KL; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2021 Aug 02; Vol. 131 (15).

Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.

Autor: Huigen MC; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein zuid 10, route 830, 6525 GA Nijmegen, The Netherlands., van der Graaf M; Department of Radiology, Radboud University Medical Center, Geert Grooteplein zuid 10, route 766, 6525 GA Nijmegen, The Netherlands; Department of Pediatrics, Radboud University Medical Center, Geert Grooteplein zuid 10, route 804, 6525 GA Nijmegen, The Netherlands., Morava E; Department of Pediatrics, Radboud University Medical Center, Geert Grooteplein zuid 10, route 804, 6525 GA Nijmegen, The Netherlands; Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA 70112, USA., Dassel AC; Department of Pediatrics, Deventer Hospital, Nico Bolkensteinlaan 75, 7416 SE, Deventer, The Netherlands., van Steensel MA; Department of Dermatology and GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Institute of Medical Biology, Immunos, Singapore., Seyger MM; Department of Dermatology, Radboud University Medical Center, Geert Grooteplein zuid 10, route 370, 6525 GA Nijmegen, The Netherlands., Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein zuid 10, route 830, 6525 GA Nijmegen, The Netherlands., Willemsen MA; Department of Paediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Geert Grooteplein zuid 10, route 801, 6525 GA Nijmegen, The Netherlands. Electronic address: Michel.Willemsen@radboudumc.nl.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2015 Jan; Vol. 114 (1), pp. 51-4. Date of Electronic Publication: 2014 Nov 04.

Identification of a novel resistance (E40F) and compensatory (K43E) substitution in HIV-1 reverse transcriptase.

Autor: Huigen MC; Department of Medical Microbiology, University Medical Center Utrecht, The Netherlands. c.d.g.huigen@umcutrecht.nl, van Ham PM, de Graaf L, Kagan RM, Boucher CA, Nijhuis M

Publikováno v: Retrovirology [Retrovirology] 2008 Feb 13; Vol. 5, pp. 20. Date of Electronic Publication: 2008 Feb 13.

Insertions in the beta3-beta4 loop of reverse transcriptase of human immunodeficiency virus type 1 and their mechanism of action, influence on drug susceptibility and viral replication capacity.

Autor: Eggink D; Department of Medical Microbiology, University Medical Center Utrecht, The Netherlands., Huigen MC, Boucher CA, Götte M, Nijhuis M

Publikováno v: Antiviral research [Antiviral Res] 2007 Aug; Vol. 75 (2), pp. 93-103. Date of Electronic Publication: 2007 Mar 26.

Spectrum of antiviral activity of o-(acetoxyphenyl)hept-2-ynyl sulphide (APHS).

Autor: Pereira CF; Eijkman-Winkler Center, Hp G04.614, University Medical Center Utrecht, Heidelberglaan 100, NL-3584 CX Utrecht, The Netherlands., Rutten K, Stránská R, Huigen MC, Aerts PC, de Groot RJ, Egberink HF, Schuurman R, Nottet HS

Publikováno v: International journal of antimicrobial agents [Int J Antimicrob Agents] 2005 May; Vol. 25 (5), pp. 419-26.