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- 2020
-
Mark
Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease
(
- Contribution to journal › Article
- 2019
-
Mark
An UPLC-MS/MS assay to measure glutathione as marker for oxidative stress in cultured cells
(
- Contribution to journal › Article
- 2013
-
Mark
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2010
-
Mark
Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
(
- Contribution to journal › Article
- 1999
-
Mark
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
(
- Contribution to journal › Article