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You searched for: Author/Creator de Boer, Lonneke- de Boer, Lonneke [remove] 7
- 616.39042 6
- Metabolism -- Disorders -- Periodicals 6
- Metabolism, Inborn errors of -- Periodicals 6
- 616.04205 1
- CDG type 1 (CDG‐I) -- congenital disorders of glycosylation (CDG) -- diagnostics by mass spectrometry -- glycomics -- multi‐omics -- smMIPs 1
- Canavan disease -- ASPA -- ASPA activity -- missense variants -- clinical phenotype -- functional assay 1
- Human chromosome abnormalities -- Periodicals 1
- LCHAD deficiency -- LCKAT deficiency -- long‐chain fatty acid oxidation -- mitochondrial trifunctional protein complex -- MTP deficiency -- newborn screening 1
- Mutation (Biology) -- Periodicals 1
- disease severity scoring system -- fatty acid oxidation -- functional fibroblast studies -- multiple acyl‐CoA dehydrogenase deficiency -- prognostic marker 1