Leo A. J. Kluijtmans

Radboud University Nijmegen — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

50h-index13.4kcitations161works1.22yr avg
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Research Topics

Metabolism and Genetic Disorders(63), Folate and B Vitamins Research(55), Metabolomics and Mass Spectrometry Studies(25), Esophageal and GI Pathology(25), Mitochondrial Function and Pathology(23)

Publications160 total

Evaluation of Newborn Screening for Diseases Using <scp>C5</scp> ‐ <scp>OH</scp> as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of <scp>C5</scp> ‐ <scp>OH</scp> Screening in the Netherlands
Journal of Inherited Metabolic Disease·2025Open Access
Sodium azide (NaN3) intoxication, “the man who lived”: potential effective antidote and treatment strategy
Critical Care·2025· 2 citedOpen Access
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability
International Medical Case Reports Journal·2025· 2 citedOpen Access
[Mild traumatic brain injury in children: can we reduce the number of CT-scans?]
PubMed·2024
Application of a Computational Metabolomics Workflow for the Diagnosis of Inborn Errors of Metabolism in a Laboratory Setting
Methods in molecular biology·2024· 2 cited
Substantial variability in what is considered important in the radiological report for anterior shoulder instability: a Delphi study with Dutch musculoskeletal radiologists and orthopedic surgeons
JSES International·2024· 1 citedOpen Access
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
International Journal of Neonatal Screening·2023· 7 citedOpen Access
Comparison of diffusion weighted imaging b0 with T2*-weighted gradient echo or susceptibility weighted imaging for intracranial hemorrhage detection after reperfusion therapy for ischemic stroke
Neuroradiology·2023· 4 citedOpen Access
Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data
Metabolites·2023· 2 citedOpen Access
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
Genetics in Medicine·2022· 12 citedOpen Access
Long-term MRI Findings in Patients With Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid
Neurology·2022· 16 cited
Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension
Metabolites·2022· 4 citedOpen Access
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
Molecular Genetics and Metabolism Reports·2022· 5 citedOpen Access
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening
Clinical Chemistry·2021· 1 citedOpen Access
Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy
Analytical Chemistry·2021· 35 citedOpen Access
Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma
Endocrine·2021· 7 citedOpen Access
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline
Metabolites·2021· 19 citedOpen Access
Pre- Versus Post-Operative Untargeted Plasma Nuclear Magnetic Resonance Spectroscopy Metabolomics of Pheochromocytoma And Paraganglioma
2021Open Access
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy
Journal of Clinical Investigation·2021· 61 citedOpen Access
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
Frontiers in Neurology·2021· 22 citedOpen Access
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Frequent Co-authors

Henk J. Blom(20), Ron A. Wevers(20), Udo F. H. Engelke(13), Éva Morava(10), Martin den Heijer(9), Godfried H.J. Boers(8), Frans J.M. Trijbels(7), Saskia B. Wortmann(6), Richard J. Rodenburg(6), Jan Smeıtınk(5), Clara D.M. van Karnebeek(5), Petra Verhoef(5), Ian Young(4), Sandra G. Heil(4), Karlien L. M. Coene(4), Karin J.A Lievers(4), Jonathan Martens(4), Giel Berden(4), Jos Oomens(4), Lambertus P. van den Heuvel(3)