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You searched for: Author/Creator Coene, Karlien L. M.

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1. Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity. Issue 1 (7th May 2021)

2. Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders. Issue 4 (22nd May 2022)

3. Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles. Issue 5 (23rd May 2020)

4. How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. Issue 4 (22nd May 2022)

5. Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation. Issue 1 (22nd November 2020)

6. Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants. Issue 1 (28th December 2020)

7. Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. Issue 3 (16th February 2018)

8. Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit. Issue 1 (17th October 2022)

10. Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra. Issue 3 (14th November 2017)