E-LIB Suche - Ergebnisse für: Karlien L. M. Coene

1

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/..

2

Succinic semialdehyde dehydrogenase deficiency in mice and ..:

Peters, Tessa M. A. ; Engelke, Udo F. H. ; de Boer, Siebolt...
Journal of Inherited Metabolic Disease. 47 (2023) 3 - p. 417-430 , 2023

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

3

Distinguishing Oligosaccharide Isomers Using Far-Infrared I..:

van Outersterp, Rianne E. ; Kooijman, Pieter C. ; Merx, Jona...
Analytical Chemistry. 95 (2023) 26 - p. 9787-9796 , 2023

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

4

Oral sialic acid supplementation inNANS‐CDG: Results of a s..:

den Hollander, Bibiche ; Brands, Marion M. ; de Boer, Lonneke...
Journal of Inherited Metabolic Disease. 46 (2023) 5 - p. 956-971 , 2023

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

5

How to proceed after "negative" exome: A review on genetic ..:

Wortmann, Saskia B. ; Oud, Machteld M. ; Alders, Mariëlle...
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 663-681 , 2022

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

6

Application of metabolite set enrichment analysis on untarg..:

Hoegen, Brechtje ; Hampstead, Juliet E. ; Engelke, Udo F.H....
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 682-695 , 2022

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

7

Untargeted Metabolomics: Next-Generation Metabolic Screenin:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,

Coene, Karlien L. M. ; Jans, Judith J. M. ; Engelke, Udo F. H.. - p. 85-94 , 2022

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

8

Novel cerebrospinal fluid biomarkers of glucose transporter..:

Peters, Tessa M. A. ; Merx, Jona ; Kooijman, Pieter C....
Journal of Inherited Metabolic Disease. 46 (2022) 1 - p. 66-75 , 2022

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

9

Identification of Δ-1-pyrroline-5-carboxylate derived bioma..:

Merx, Jona ; van Outersterp, Rianne E. ; Engelke, Udo F. H....
Communications Biology. 5 (2022) 1 - p. , 2022

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

10

Clinical Reasoning: Pediatric Seizures of Unknown Cause:

Tseng, Laura A. ; Hoytema van Konijnenburg, Eva M.M. ; Longo, Nicola...
Neurology. 98 (2022) 24 - p. 1023-1028 , 2022

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

11

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/..

12

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/..

13

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/..

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

Decreased purine metabolite levels in cerebrospinal fluid o..:

van den Berg, Emma ; Van Nostrand, William E. ; Peters, Tessa M.A....
Alzheimer's & Dementia. 17 (2021) S4 - p. , 2021

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