Research output

  1. Identification of human D lactate dehydrogenase deficiency

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

    Research output: Contribution to journalArticleAcademicpeer-review

  3. A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

    Research output: Contribution to journalArticleAcademicpeer-review

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