Leo Kluijtmans

7PUBLICATIONS
54CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Cell and nuclear divisionBiomedical imagingMedical biochemistry - inorganic elements and compoundsCardiology (incl. cardiovascular diseases)
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Publications (7)

|Jan 23, 2025
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.

Willem M A Verhoeven, Rolph Pfundt, Udo F H Engelke

|Oct 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

Abigail Veldman, M B Gea Kiewiet, Dineke Westra

|Jan 21, 2023
Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data.

Michiel Bongaerts, Purva Kulkarni, Alan Zammit

|Jul 27, 2022
Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension.

Nikolaos G Bliziotis, Leo A J Kluijtmans, Gerjen H Tinnevelt

|Nov 10, 2021
Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy.

Rianne E van Outersterp, Udo F H Engelke, Jona Merx

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