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1

Benchmarking Outlier Detection Methods for Detecting IEM Pa..:

Bongaerts, Michiel ; Kulkarni, Purva ; Zammit, Alan...
Metabolites. 13 (2023) 1 - p. 97 , 2023

Link: https://doi.org/10.3390/..

2

Diagnosing, discarding, or de-VUSsing: A practical guide to..:

Ferreira, Elise A. ; Veenvliet, Annemarijne R.J. ; Engelke, Udo F.H....
Genetics in Medicine. 25 (2023) 1 - p. 125-134 , 2023

Link: https://doi.org/10.1016/..

3

A Delphi Survey Study to Formulate Statements on the Treata..:

Veldman, Abigail ; Kiewiet, M. B. Gea ; Westra, Dineke...
International Journal of Neonatal Screening. 9 (2023) 4 - p. 56 , 2023

Link: https://doi.org/10.3390/..

4

Interobserver Agreement on Intracranial Hemorrhage on Magne..:

van der Ende, Nadinda A.M. ; Luijten, Sven P.R. ; Kluijtmans, Leo...
Stroke. 54 (2023) 6 - p. 1587-1592 , 2023

Link: https://doi.org/10.1161/..

5

Comparison of diffusion weighted imaging b0 with T2*-weight..:

Luijten, Sven P. R. ; van der Ende, Nadinda A. M. ; Cornelissen, Sandra A. P....
Neuroradiology. 65 (2023) 11 - p. 1649-1655 , 2023

Link: https://doi.org/10.1007/..

6

Long-term MRI Findings in Patients With Cerebrotendinous Xa..:

Stelten, Bianca M.L. ; Lycklama à Nijeholt, Geert J. ; Hendriks, Evelien...
Neurology. 99 (2022) 13 - p. 559-566 , 2022

Link: https://doi.org/10.1212/..

7

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Cli..:

Veenvliet, Annemarijne R.J. ; Garrelfs, Mark R. ; Udink ten Cate, Floris E.A....
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100873 , 2022

Link: https://doi.org/10.1016/..

8

Targeting the Diagnosis in an Adolescent with Epilepsy and ..:

Tseng, Laura A ; Engelke, Udo F H ; Huigen, Marleen C D G...
Clinical Chemistry. 68 (2022) 5 - p. 732-735 , 2022

Link: https://doi.org/10.1093/..

9

Preanalytical Pitfalls in Untargeted Plasma Nuclear Magneti..:

Bliziotis, Nikolaos G. ; Kluijtmans, Leo A. J. ; Tinnevelt, Gerjen H....
Metabolites. 12 (2022) 8 - p. 679 , 2022

Link: https://doi.org/10.3390/..

10

Amadori rearrangement products as potential biomarkers for ..:

van Outersterp, Rianne E. ; Moons, Sam J. ; Engelke, Udo F. H....
Communications Biology. 4 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

11

Metabolite Identification Using Infrared Ion Spectroscopy─N..:

van Outersterp, Rianne E. ; Engelke, Udo F.H. ; Merx, Jona...
Analytical Chemistry. 93 (2021) 46 - p. 15340-15348 , 2021

Link: https://doi.org/10.1021/..

12

The role of clinical response to treatment in determining p..:

Shen, Joseph J. ; Wortmann, Saskia B. ; de Boer, Lonneke...
Genetics in Medicine. 23 (2021) 3 - p. 581-585 , 2021

Link: https://doi.org/10.1038/..

13

Pre- versus post-operative untargeted plasma nuclear magnet..:

Bliziotis, Nikolaos G. ; Kluijtmans, Leo A. J. ; Soto, Sebastian...
Endocrine. 75 (2021) 1 - p. 254-265 , 2021

Link: https://doi.org/10.1007/..

14

NANS-CDG: Delineation of the Genetic, Biochemical, and Clin..:

den Hollander, Bibiche ; Rasing, Anne ; Post, Merel A....
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

15

AbnormalVLCADDnewborn screening resemblingMADDin four neona..:

Hagemeijer, Marne C. ; Oussoren, Esmee ; Ruijter, George J. G....
JIMD Reports. 61 (2021) 1 - p. 12-18 , 2021

Link: https://doi.org/10.1002/..

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