Karlien M. Coene

Veldhoven, NB, Netherlands

Last Updated: 09/26/2026

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Found 35 publications

Application of a Computational Metabolomics Workflow for the Diagnosis of Inborn Errors of Metabolism in a Laboratory Setting.

Application of a Computational Metabolomics Workflow for the Diagnosis of Inborn Errors of Metabolism in a Laboratory Setting.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: October 01, 2024

Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.

Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.

Journal: Metabolites

Published: July 18, 2024

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria.

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria.

Journal: Journal of inherited metabolic disease

Published: November 17, 2023

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.

Journal: Journal of inherited metabolic disease

Published: May 13, 2023

Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.

Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.

Journal: Journal of inherited metabolic disease

Published: May 03, 2023

LC-MS/MS in clinical chemistry: Did it live up to its promise?: Consideration from the Dutch EQAS organisation.

LC-MS/MS in clinical chemistry: Did it live up to its promise?: Consideration from the Dutch EQAS organisation.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 29, 2022

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.

Journal: Journal of inherited metabolic disease

Published: June 10, 2022

Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.

Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 04, 2022

Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.

Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.

Journal: Communications biology

Published: April 06, 2022

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

Journal: Journal of inherited metabolic disease

Published: January 20, 2022

Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.

Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.

Journal: Journal of inherited metabolic disease

Published: October 26, 2021

Clinical Reasoning: Pediatric Seizures of Unknown Cause.

Clinical Reasoning: Pediatric Seizures of Unknown Cause.

Journal: Neurology

Published: September 09, 2021

Showing 1-12 of 35

Last Updated: 09/26/2026