Researcher profile · Semantic Scholar

M. Huigen

h-index: 15
Works: 33
Citations: 888

Most-cited papers

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
K. Coene, L. Kluijtmans, E. van der Heeft, U. Engelke +14 more
2018Journal of Inherited Metabolic Disease172 citations Open access
Semantic Scholar
Multiple effects of HIV‐1 trans‐activator protein on the pathogenesis of HIV‐1 infection
M. Huigen, W. Kamp, H. Nottet
2004European Journal of Clinical Investigation118 citations
Semantic Scholar
Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).
D. Westra, E. Volokhina, E. V. D. van der Heijden, A. Vos +6 more
2010Nephrology, Dialysis and Transplantation90 citations
Semantic Scholar
Effect of drugs on renal development.
M. Schreuder, Ruud R. G. Bueters, M. Huigen, F. Russel +2 more
2011American Society of Nephrology. Clinical Journal84 citations
Semantic Scholar
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
C. van Karnebeek, R. Ramos, X. Wen, M. Tarailo-Graovac +29 more
2019American Journal of Human Genetics70 citations Open access
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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
U. Engelke, Rianne E. van Outersterp, Jona Merx, Fred A. M. G. van Geenen +27 more
2021Journal of Clinical Investigation51 citations Open access
Semantic Scholar
A novel real-time PCR assay to determine relative replication capacity for HIV-1 protease variants and/or reverse transcriptase variants.
N. V. van Maarseveen, M. Huigen, D. D. de Jong, A. Smits +2 more
2006Journal of Virological Methods37 citations
Semantic Scholar
HIV-1 Transmission Cluster with M41L ‘Singleton’ Mutation and Decreased Transmission of Resistance in Newly Diagnosed Swedish Homosexual Men
Anette Lindström, A. Ohlis, M. Huigen, M. Nijhuis +4 more
2006Antiviral Therapy29 citations Open access
Semantic Scholar
Metabolite Identification Using Infrared Ion Spectroscopy—Novel Biomarkers for Pyridoxine-Dependent Epilepsy
Rianne E. van Outersterp, U. Engelke, Jona Merx, G. Berden +13 more
2021Analytical Chemistry28 citations Open access
Semantic Scholar
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism
Rianne E. van Outersterp, S. Moons, U. Engelke, H. Bentlage +13 more
2021Communications Biology26 citations Open access
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Organic anion transporters 1 and 3 influence cellular energy metabolism in renal proximal tubule cells
J. Vriend, Charlotte A. Hoogstraten, Kevin R. Venrooij, Bartholomeus T. van den Berge +7 more
2019Biological chemistry20 citations Open access
Semantic Scholar
The role of clinical response to treatment in determining pathogenicity of genomic variants
Joseph J. Shen, S. Wortmann, L. de Boer, L. Kluijtmans +7 more
2020Genetics in Medicine18 citations Open access
Semantic Scholar
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.
M. Huigen, M. van der Graaf, E. Morava, A. C. Dassel +4 more
2015Molecular Genetics and Metabolism16 citations
Semantic Scholar
Identification of a novel resistance (E40F) and compensatory (K43E) substitution in HIV-1 reverse transcriptase
M. Huigen, P. V. van Ham, L. de Graaf, R. Kagan +2 more
2008Retrovirology16 citations Open access
Semantic Scholar
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline
Brechtje Hoegen, Alan Zammit, Albert Gerritsen, U. Engelke +9 more
2021Metabolites15 citations Open access
Semantic Scholar
Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation
K. Coene, C. Timmer, S. Goorden, A. E. ten Hoedt +13 more
2020JIMD Reports15 citations Open access
Semantic Scholar
Aspirin-like molecules that inhibit human immunodeficiency virus 1 replication.
C. Pereira, Judith T M L Paridaen, Karla Rutten, M. Huigen +8 more
2003Antiviral Research13 citations
Semantic Scholar
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.
A. van de Logt, L. Kluijtmans, M. Huigen, M. Janssen
2016JIMD Reports12 citations
Semantic Scholar
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.
Dirk Eggink, M. Huigen, C. Boucher, M. Götte +1 more
2007Antiviral Research12 citations
Semantic Scholar
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity
M. C. Hagemeijer, E. Oussoren, G. Ruijter, W. Onkenhout +9 more
2021JIMD Reports10 citations Open access
Semantic Scholar
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Elise A. Ferreira, A. Veenvliet, U. Engelke, L. Kluijtmans +18 more
2022Genetics in Medicine8 citations Open access
Semantic Scholar
Evolution of a novel 5-amino-acid insertion in the β3-β4 loop of HIV-1 reverse transcriptase
M. Huigen, L. de Graaf, Dirk Eggink, R. Schuurman +5 more
20077 citations Open access
Semantic Scholar
Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.
T. Ijzermans, W. V. D. van der Meijden, M. Hoeks, M. Huigen +2 more
2022American Journal of Kidney Diseases6 citations Open access
Semantic Scholar
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
A. Veenvliet, M. Garrelfs, Floris E. A. Udink ten Cate, S. Ferdinandusse +13 more
2022Molecular Genetics and Metabolism Reports5 citations Open access
Semantic Scholar
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II
Jona Merx, Rianne E. van Outersterp, U. Engelke, V. Hendriks +10 more
2022Communications Biology5 citations Open access
Semantic Scholar
Evolution of a novel 5-amino-acid insertion in the beta3-beta4 loop of HIV-1 reverse transcriptase.
M. Huigen, L. de Graaf, Dirk Eggink, R. Schuurman +5 more
2007Virology3 citations
Semantic Scholar
Identification of novel biomarkers for pyridoxine-dependent epilepsy using untargeted metabolomics and infrared ion spectroscopy - biochemical insights and clinical implications
U. Engelke, Rianne E. van Outersterp, Jona Merx, Fred A. M. G. van Geenen +27 more
2021medRxiv2 citations Open access
Semantic Scholar
Spectrum of antiviral activity of o-(acetoxyphenyl)hept-2-ynyl sulphide (APHS).
C. Pereira, Karla Rutten, R. Stranska, M. Huigen +5 more
2005International Journal of Antimicrobial Agents2 citations Open access
Semantic Scholar
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
Laura A. Tseng, U. Engelke, M. Huigen, L. Kluijtmans +8 more
2022Clinical Chemistry0 citations Open access
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The role of clinical response to treatment in determining pathogenicity of genomic variants
Joseph J. Shen, S. Wortmann, L. de Boer, L. Kluijtmans +7 more
2020Genetics in Medicine0 citations Open access
Semantic Scholar
Complement component C3 aberrations in patients with atypical haemolytic uraemic syndrome (aHUS)
E. Volokhina, D. Westra, M. Hendriksfranssen, E. van Loon +4 more
20100 citations
Semantic Scholar
Molecular Mechanisms of Resistance to Nucleoside Reverse Transcriptase Inhibitors
M. Huigen, C. Boucher
20090 citations
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Chapter 32 Molecular Mechanisms of Resistance to Nucleoside Reverse Transcriptase Inhibitors
M. Huigen, C. Boucher
0 citations
Semantic Scholar

U. Engelke

×8

C. Boucher×7

M. Nijhuis×6

Rianne E. van Outersterp×5

T. Boltje×5

J. Martens×5

M. D. de Vries×4

M. Janssen×4